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"http://reg.genome.network/refseq/RS093128" }, { "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "C", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526021.1:c.2821C>T" ], "proteinEffect": { "hgvs": "XP_011524323.1:p.Arg941Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS093130" }, { "coordinates": [ { "allele": "T", "end": 3557, "referenceAllele": "C", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.1:c.2707C>T" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Arg903Ter", "hgvsWellDefined": "XP_011524325.1:p.Arg903_Ser1213delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093131" }, { "coordinates": [ { "allele": "T", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526024.1:c.2101C>T" ], "proteinEffect": { "hgvs": "XP_011524326.1:p.Arg701Ter", "hgvsWellDefined": "XP_011524326.1:p.Arg701_Ser1011delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093132" }, { "@id": "http://reg.genome.network/allele/PA2580333915", "coordinates": [ { "allele": "T", "end": 3161, "referenceAllele": "C", "start": 3160 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.6:c.2821C>T" ], "proteinEffect": { "hgvs": "NP_005594.2:p.Arg941Ter", "hgvsWellDefined": "NP_005594.2:p.Arg941_Ser1251delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525329" }, { "coordinates": [ { "allele": "T", "end": 3671, "referenceAllele": "C", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.4:c.2821C>T" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Arg941Ter", "hgvsWellDefined": "XP_006722544.1:p.Arg941_Ser1251delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540549" }, { "coordinates": [ { "allele": "T", "end": 3557, "referenceAllele": "C", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.3:c.2707C>T" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Arg903Ter", "hgvsWellDefined": "XP_011524325.1:p.Arg903_Ser1213delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548105" }, { "@id": "http://reg.genome.network/allele/PA2828509678", "coordinates": [ { "allele": "T", "end": 3164, "referenceAllele": "C", "start": 3163 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374385.1:c.2821C>T" ], "proteinEffect": { "hgvs": "NP_001361314.1:p.Arg941Ter", "hgvsWellDefined": "NP_001361314.1:p.Arg941_Ser1251delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693251", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.2821C>T" }, "RefSeq": { "hgvs": "NM_001374385.1:c.2821C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Arg941Ter" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Arg941Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828510178", "coordinates": [ { "allele": "T", "end": 3066, "referenceAllele": "C", "start": 3065 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374386.1:c.2671C>T" ], "proteinEffect": { "hgvs": "NP_001361315.1:p.Arg891Ter", "hgvsWellDefined": "NP_001361315.1:p.Arg891_Ser1201delinsTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693252" }, { "coordinates": [ { "allele": "A", "end": 682, "endIntronDirection": "-", "endIntronOffset": 12701, "referenceAllele": "G", "start": 682, "startIntronDirection": "-", "startIntronOffset": 12702 } ], "gene": "http://reg.genome.network/gene/GN056042", "geneNCBI_id": 100505549, "geneSymbol": "ATP8B1-AS1", "hgvs": [ "NR_164148.1:n.683-12702G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705709" } ], "type": "nucleotide" }