{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388026108", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835638[alleleid]", "alleleId": 2835638, "preferredName": "NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2679792", "RCV": [ "RCV003464930" ], "variationId": 2679792 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52534451T>A?assembly=hg19", "id": "chr13:g.52534451T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51960315T>A?assembly=hg38", "id": "chr13:g.51960315T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1958647126", "rs": 1958647126 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51960315, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.1954A>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.1954A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Lys652Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Lys652Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2026, "endIntronDirection": "-", "endIntronOffset": 2707, "referenceAllele": "A", "start": 2026, "startIntronDirection": "-", "startIntronOffset": 2708 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.1870-2708A>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:n.1870-2708A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "T", "end": 1621, "referenceAllele": "A", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.1621A>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Lys541Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "T", "end": 2122, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "A", "start": 2122, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.1870-1771A>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:n.1870-1771A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "A", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.1954A>T" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Lys652Ter", "hgvsWellDefined": "ENSP00000501168.1:p.Lys652_Ile1387delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "T", "end": 1425, "endIntronDirection": "-", "endIntronOffset": 2707, "referenceAllele": "A", "start": 1425, "startIntronDirection": "-", "startIntronOffset": 2708 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.1426-2708A>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:n.1426-2708A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "A", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.1954A>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Lys652Ter", "hgvsWellDefined": "ENSP00000242839.4:p.Lys652_Ile1465delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "T", "end": 1871, "endIntronDirection": "-", "endIntronOffset": 2707, "referenceAllele": "A", "start": 1871, "startIntronDirection": "-", "startIntronOffset": 2708 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.1870-2708A>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:n.1870-2708A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "T", "end": 1778, "referenceAllele": "A", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.1621A>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Lys541Ter", "hgvsWellDefined": "ENSP00000383217.3:p.Lys541_Ile1354delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "T", "end": 1359, "endIntronDirection": "-", "endIntronOffset": 10153, "referenceAllele": "A", "start": 1359, "startIntronDirection": "-", "startIntronOffset": 10154 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.1286-10154A>T" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:n.1286-10154A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "A", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.1954A>T" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Lys652Ter", "hgvsWellDefined": "ENSP00000393343.2:p.Lys652_Ile1400delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "A", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.1954A>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Lys652Ter", "hgvsWellDefined": "ENSP00000416738.2:p.Lys652_Ile1387delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "T", "end": 1664, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "A", "start": 1664, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000482841.6:n.1665-1771A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322439" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 1522, "referenceAllele": "A", "start": 82, "startIntronDirection": "+", "startIntronOffset": 1521 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.1:c.82+1522A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407767" }, { "coordinates": [ { "allele": "T", "end": 2026, "referenceAllele": "A", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.1954A>T" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:p.Lys652Ter", "hgvsWellDefined": "ENSP00000489234.1:p.Lys652_Arg894delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProGlyGlyCysTrpGlnMetArgThrProThrSerThrSerProArgGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "A", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634620.1:n.446A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407886" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "A", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.1954A>T" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Lys652Ter", "hgvsWellDefined": "ENSP00000489398.1:p.Lys652_Ile1417delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 13836, "referenceAllele": "A", "start": 211, "startIntronDirection": "-", "startIntronOffset": 13837 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000635406.1:n.212-13837A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS408123" }, { "@id": "http://reg.genome.network/allele/PA2825038307", "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "A", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.1954A>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Lys652Ter", "hgvsWellDefined": "NP_000044.2:p.Lys652_Ile1465delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "coordinates": [ { "allele": "T", "end": 2026, "endIntronDirection": "-", "endIntronOffset": 2707, "referenceAllele": "A", "start": 2026, "startIntronDirection": "-", "startIntronOffset": 2708 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.1870-2708A>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:n.1870-2708A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "@id": "http://reg.genome.network/allele/PA2826317596", "coordinates": [ { "allele": "T", "end": 1778, "referenceAllele": "A", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.1621A>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Lys541Ter", "hgvsWellDefined": "NP_001230111.1:p.Lys541_Ile1354delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "T", "end": 2016, "referenceAllele": "A", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Lys620Ter", "hgvsWellDefined": "XP_005266480.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "T", "end": 2108, "referenceAllele": "A", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Lys620Ter", "hgvsWellDefined": "XP_005266481.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.1954A>T" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Lys652Ter", "hgvsWellDefined": "XP_005266484.1:p.Lys652_Ile1387delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "T", "end": 2088, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "A", "start": 2088, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.1870-1771A>T" ], "proteinEffect": { "hgvs": "XP_005266485.1:n.1870-1771A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "T", "end": 2088, "referenceAllele": "A", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.1954A>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Lys652Ter", "hgvsWellDefined": "XP_005266487.1:p.Lys652_Ile1465delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "A", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.1918A>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Lys640Ter", "hgvsWellDefined": "XP_005266488.1:p.Lys640_Ile1453delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "T", "end": 2088, "endIntronDirection": "-", "endIntronOffset": 2707, "referenceAllele": "A", "start": 2088, "startIntronDirection": "-", "startIntronOffset": 2708 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.1870-2708A>T" ], "proteinEffect": { "hgvs": "XP_005266489.1:n.1870-2708A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "T", "end": 1948, "referenceAllele": "A", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Lys620Ter", "hgvsWellDefined": "XP_006719900.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "T", "end": 73, "endIntronDirection": "+", "endIntronOffset": 1522, "referenceAllele": "A", "start": 73, "startIntronDirection": "+", "startIntronOffset": 1521 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719838.1:c.-64+1522A>T" ], "proteinEffect": { "hgvs": "XP_006719901.1:n.-64+1522A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073356" }, { "coordinates": [ { "allele": "T", "end": 73, "endIntronDirection": "+", "endIntronOffset": 1522, "referenceAllele": "A", "start": 73, "startIntronDirection": "+", "startIntronOffset": 1521 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719839.1:c.-64+1522A>T" ], "proteinEffect": { "hgvs": "XP_006719902.1:n.-64+1522A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073357" }, { "coordinates": [ { "allele": "T", "end": 1960, "referenceAllele": "A", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Lys620Ter", "hgvsWellDefined": "XP_011533419.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.1954A>T" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Lys652Ter", "hgvsWellDefined": "XP_011533420.1:p.Lys652_Ile1420delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.1954A>T" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Lys652Ter", "hgvsWellDefined": "XP_011533421.1:p.Lys652_Ile1404delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "T", "end": 1926, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "A", "start": 1926, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.1708-1771A>T" ], "proteinEffect": { "hgvs": "XP_011533422.1:n.1708-1771A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.1954A>T" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Lys652Ter", "hgvsWellDefined": "XP_011533423.1:p.Lys652_Ile1294delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "A", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535122.1:c.622A>T" ], "proteinEffect": { "hgvs": "XP_011533424.1:p.Lys208Ter", "hgvsWellDefined": "XP_011533424.1:p.Lys208_Ile1021delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102131" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.2173A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.2173A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.2173A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "A", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941604.1:n.2173A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136197" }, { "@id": "http://reg.genome.network/allele/PA2827325749", "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "A", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.1:c.1954A>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Lys652Ter", "hgvsWellDefined": "NP_001317507.1:p.Lys652_Ile1387delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516930" }, { "coordinates": [ { "allele": "T", "end": 2026, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "A", "start": 2026, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.1:c.1870-1771A>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:n.1870-1771A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS516931" }, { "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "A", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Lys620Ter", "hgvsWellDefined": "XP_005266481.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "A", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.1954A>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Lys652Ter", "hgvsWellDefined": "XP_005266487.1:p.Lys652_Ile1465delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "T", "end": 5003, "referenceAllele": "A", "start": 5002 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.1918A>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Lys640Ter", "hgvsWellDefined": "XP_005266488.1:p.Lys640_Ile1453delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "T", "end": 2265, "referenceAllele": "A", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Lys620Ter", "hgvsWellDefined": "XP_006719900.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "T", "end": 3200, "referenceAllele": "A", "start": 3199 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Lys620Ter", "hgvsWellDefined": "XP_011533419.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "A", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.1858A>T" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Lys620Ter", "hgvsWellDefined": "XP_016876116.1:p.Lys620_Ile1433delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "@id": "http://reg.genome.network/allele/PA2825038307", "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "A", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.1954A>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Lys652Ter", "hgvsWellDefined": "NP_000044.2:p.Lys652_Ile1465delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.1954A>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.1954A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Lys652Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Lys652Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1982, "endIntronDirection": "-", "endIntronOffset": 2707, "referenceAllele": "A", "start": 1982, "startIntronDirection": "-", "startIntronOffset": 2708 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.1870-2708A>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:n.1870-2708A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "coordinates": [ { "allele": "T", "end": 1982, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "A", "start": 1982, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.1870-1771A>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:n.1870-1771A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "@id": "http://reg.genome.network/allele/PA2826317596", "coordinates": [ { "allele": "T", "end": 1734, "referenceAllele": "A", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.1621A>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Lys541Ter", "hgvsWellDefined": "NP_001230111.1:p.Lys541_Ile1354delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "@id": "http://reg.genome.network/allele/PA2827325749", "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "A", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.1954A>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Lys652Ter", "hgvsWellDefined": "NP_001317507.1:p.Lys652_Ile1387delinsSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }