{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388035967", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1364379[alleleid]", "alleleId": 1364379, "preferredName": "NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1452660", "RCV": [ "RCV001999923" ], "variationId": 1452660 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52544832G>A?assembly=hg19", "id": "chr13:g.52544832G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51970696G>A?assembly=hg38", "id": "chr13:g.51970696G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/746637821", "rs": 746637821 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-51970696-G-A?dataset=gnomad_r4", "id": "13-51970696-G-A", "variant": "13:51970696 G / A" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51970696, "referenceAllele": "G", "start": 51970695 } ], "hgvs": [ "NC_000013.11:g.51970696G>A", "CM000675.2:g.51970696G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 52544832, "referenceAllele": "G", "start": 52544831 } ], "hgvs": [ "NC_000013.10:g.52544832G>A", "CM000675.1:g.52544832G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51442833, "referenceAllele": "G", "start": 51442832 } ], "hgvs": [ "NC_000013.9:g.51442833G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 45799, "referenceAllele": "C", "start": 45798 } ], "hgvs": [ "NG_008806.1:g.45799C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:p.Gln447Ter", "hgvsWellDefined": "ENSP00000489512.2:p.Gln447_Leu663delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysHisSerSerValGlyGlyThrSerThrPheArgProThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "T", "end": 1876, "referenceAllele": "C", "start": 1875 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.*83C>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:n.*83C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Gln447Ter", "hgvsWellDefined": "ENSP00000500964.2:p.Gln447_Ile1258delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Gln447Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.1339C>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.1339C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Gln447Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Gln447Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Gln447Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Gln447_Ile1258delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Gln336Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "T", "end": 1592, "referenceAllele": "C", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Gln447Ter", "hgvsWellDefined": "ENSP00000416738.3:p.Gln447_Ile1381delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "C", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000483772.2:n.95C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757452" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Gln447Ter", "hgvsWellDefined": "ENSP00000501168.1:p.Gln447_Ile1387delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673789.1:n.295C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773872" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.1:c.533C>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.1:n.533C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773926" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674078.1:n.1440C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774101" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.895C>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Gln299Ter", "hgvsWellDefined": "ENSP00000500964.1:p.Gln299_Ile1110delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Gln447Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Gln447Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Gln447_Ile1258delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Gln336Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "T", "end": 1359, "endIntronDirection": "+", "endIntronOffset": 3239, "referenceAllele": "C", "start": 1359, "startIntronDirection": "+", "startIntronOffset": 3238 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.1285+3239C>T" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:n.1285+3239C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Gln447Ter", "hgvsWellDefined": "ENSP00000393343.2:p.Gln447_Ile1400delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Gln447Ter", "hgvsWellDefined": "ENSP00000416738.2:p.Gln447_Ile1387delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "C", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000482841.6:n.1460C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322439" }, { "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "C", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000483772.1:n.95C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323171" }, { "coordinates": [ { "allele": "T", "end": 1411, "referenceAllele": "C", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:p.Gln447Ter", "hgvsWellDefined": "ENSP00000489234.1:p.Gln447_Arg894delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProGlyGlyCysTrpGlnMetArgThrProThrSerThrSerProArgGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.1339C>T" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Gln447Ter", "hgvsWellDefined": "ENSP00000489398.1:p.Gln447_Ile1417delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 24217, "referenceAllele": "C", "start": 211, "startIntronDirection": "-", "startIntronOffset": 24218 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000635406.1:n.212-24218C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS408123" }, { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Gln447Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "@id": "http://reg.genome.network/allele/PA2825279370", "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Gln447Ter", "hgvsWellDefined": "NP_001005918.1:p.Gln447_Ile1258delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Gln336Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "T", "end": 1493, "referenceAllele": "C", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Gln447Ter", "hgvsWellDefined": "XP_005266484.1:p.Gln447_Ile1387delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_005266485.1:p.Gln447Ter", "hgvsWellDefined": "XP_005266485.1:p.Gln447_Ile1381delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "T", "end": 1473, "referenceAllele": "C", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Gln447Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "C", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.1303C>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Gln435Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_005266489.1:p.Gln447Ter", "hgvsWellDefined": "XP_005266489.1:p.Gln447_Ile1303delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Gln447Ter", "hgvsWellDefined": "XP_011533420.1:p.Gln447_Ile1420delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Gln447Ter", "hgvsWellDefined": "XP_011533421.1:p.Gln447_Ile1404delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_011533422.1:p.Gln447Ter", "hgvsWellDefined": "XP_011533422.1:p.Gln447_Ile1327delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Gln447Ter", "hgvsWellDefined": "XP_011533423.1:p.Gln447_Ile1294delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "T", "end": 120, "referenceAllele": "C", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535122.1:c.7C>T" ], "proteinEffect": { "hgvs": "XP_011533424.1:p.Gln3Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102131" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.1558C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.1558C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.1558C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941604.1:n.1558C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136197" }, { "@id": "http://reg.genome.network/allele/PA2827325353", "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.1:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Gln447Ter", "hgvsWellDefined": "NP_001317507.1:p.Gln447_Ile1387delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516930" }, { "@id": "http://reg.genome.network/allele/PA2573200620", "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.1:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Gln447Ter", "hgvsWellDefined": "NP_001317508.1:p.Gln447_Ile1381delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516931" }, { "coordinates": [ { "allele": "T", "end": 2022, "referenceAllele": "C", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.1339C>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Gln447Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "T", "end": 4388, "referenceAllele": "C", "start": 4387 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.1303C>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Gln435Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "T", "end": 2585, "referenceAllele": "C", "start": 2584 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Gln415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Gln447Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.1339C>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.1339C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Gln447Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Gln447Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825279370", "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Gln447Ter", "hgvsWellDefined": "NP_001005918.1:p.Gln447_Ile1258delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "@id": "http://reg.genome.network/allele/PA2573200620", "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Gln447Ter", "hgvsWellDefined": "NP_001317508.1:p.Gln447_Ile1381delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluLeuLeuGlyGlyTrpTyrPheTyrValGlnAlaTyrLysSerLeuArgHisArgSerAlaAsnMetAspValLeuIleValLeuAlaThrSerIleAlaTyrValTyrSerLeuValIleLeuValValAlaValAlaGluLysAlaGluArgSerProValThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisLeuAlaLysSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Gln336Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "@id": "http://reg.genome.network/allele/PA2827325353", "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.1339C>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Gln447Ter", "hgvsWellDefined": "NP_001317507.1:p.Gln447_Ile1387delinsThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }