{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388038506", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063029[alleleid]", "alleleId": 1063029, "preferredName": "NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072000", "RCV": [ "RCV001384612" ], "variationId": 1072000 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52548170C>A?assembly=hg19", "id": "chr13:g.52548170C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51974034C>A?assembly=hg38", "id": "chr13:g.51974034C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/763051801", "rs": 763051801 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51974034, "referenceAllele": "C", "start": 51974033 } ], "hgvs": [ "NC_000013.11:g.51974034C>A", "CM000675.2:g.51974034C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 52548170, "referenceAllele": "C", "start": 52548169 } ], "hgvs": [ "NC_000013.10:g.52548170C>A", "CM000675.1:g.52548170C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51446171, "referenceAllele": "C", "start": 51446170 } ], "hgvs": [ "NC_000013.9:g.51446171C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 42461, "referenceAllele": "G", "start": 42460 } ], "hgvs": [ "NG_008806.1:g.42461G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:p.Glu396Ter", "hgvsWellDefined": "ENSP00000489512.2:p.Glu396_Leu663delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysHisSerSerValGlyGlyThrSerThrPheArgProThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "T", "end": 1485, "referenceAllele": "G", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:p.Glu396Ter", "hgvsWellDefined": "ENSP00000501045.2:p.Glu396_Gln497delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluThrGluCysCysCysValSerGlnAlaGlyLeuGluLeuLeuAlaSerSerAsnProProAlaSerAlaSerGlnSerAlaGlyIleAlaGlyValSerHisTyrAlaGlnProProSerTrpValLeuIleArgGlySerThrLysSerAspTyrIleLeuGluAspTrpCysGlyValThrValGlnCysProTrpArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Glu396Ter", "hgvsWellDefined": "ENSP00000500964.2:p.Glu396_Ile1258delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.1186G>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.1186G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Glu396Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Glu396Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Glu396Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Glu396_Ile1258delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "G", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.853G>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Glu285Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Glu396Ter", "hgvsWellDefined": "ENSP00000416738.3:p.Glu396_Ile1381delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Glu396Ter", "hgvsWellDefined": "ENSP00000501168.1:p.Glu396_Ile1387delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "T", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673789.1:n.142G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773872" }, { "coordinates": [ { "allele": "T", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.1:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000501045.1:p.Glu48_Gln149delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluThrGluCysCysCysValSerGlnAlaGlyLeuGluLeuLeuAlaSerSerAsnProProAlaSerAlaSerGlnSerAlaGlyIleAlaGlyValSerHisTyrAlaGlnProProSerTrpValLeuIleArgGlySerThrLysSerAspTyrIleLeuGluAspTrpCysGlyValThrValGlnCysProTrpArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773926" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674078.1:n.1291G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774101" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.742G>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Glu248Ter", "hgvsWellDefined": "ENSP00000500964.1:p.Glu248_Ile1110delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Glu396Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Glu396_Ile1258delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "G", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.853G>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Glu285Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:p.Glu396Ter", "hgvsWellDefined": "ENSP00000383221.3:p.Glu396_Ile1035delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Glu396Ter", "hgvsWellDefined": "ENSP00000416738.2:p.Glu396_Ile1387delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000482841.6:n.1307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322439" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:p.Glu396Ter", "hgvsWellDefined": "ENSP00000489234.1:p.Glu396_Arg894delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProGlyGlyCysTrpGlnMetArgThrProThrSerThrSerProArgGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.1186G>T" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 27555, "referenceAllele": "G", "start": 211, "startIntronDirection": "-", "startIntronOffset": 27556 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000635406.1:n.212-27556G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS408123" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "@id": "http://reg.genome.network/allele/PA2825279320", "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Glu396Ter", "hgvsWellDefined": "NP_001005918.1:p.Glu396_Ile1258delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "G", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.853G>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Glu285Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "G", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Glu396Ter", "hgvsWellDefined": "XP_005266484.1:p.Glu396_Ile1387delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_005266485.1:p.Glu396Ter", "hgvsWellDefined": "XP_005266485.1:p.Glu396_Ile1381delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "G", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "G", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.1150G>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Glu384Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_005266489.1:p.Glu396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "G", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_011533422.1:p.Glu396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Glu396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.1405G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.1405G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.1405G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941604.1:n.1405G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136197" }, { "@id": "http://reg.genome.network/allele/PA2827325258", "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.1:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Glu396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS516930" }, { "@id": "http://reg.genome.network/allele/PA2499249736", "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.1:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Glu396Ter", "hgvsWellDefined": "NP_001317508.1:p.Glu396_Ile1381delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516931" }, { "coordinates": [ { "allele": "T", "end": 1869, "referenceAllele": "G", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "T", "end": 4235, "referenceAllele": "G", "start": 4234 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.1150G>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Glu384Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "T", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "T", "end": 2432, "referenceAllele": "G", "start": 2431 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Glu364Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Glu396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.1186G>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.1186G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Glu396Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Glu396Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825279320", "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Glu396Ter", "hgvsWellDefined": "NP_001005918.1:p.Glu396_Ile1258delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "@id": "http://reg.genome.network/allele/PA2499249736", "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Glu396Ter", "hgvsWellDefined": "NP_001317508.1:p.Glu396_Ile1381delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.853G>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Glu285Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "@id": "http://reg.genome.network/allele/PA2827325258", "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.1186G>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Glu396Ter", "hgvsWellDefined": "NP_001317507.1:p.Glu396_Ile1387delinsGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }