{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402554701", "communityStandardTitle": [ "NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792813[alleleid]", "alleleId": 792813, "preferredName": "NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804427", "RCV": [ "RCV000991407", "RCV001254601" ], "variationId": 804427 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.55334358C>A?assembly=hg19", "id": "chr18:g.55334358C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.57667126C>A?assembly=hg38", "id": "chr18:g.57667126C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524081", "rs": 1057524081 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 57667126, "referenceAllele": "C", "start": 57667125 } ], "hgvs": [ "NC_000018.10:g.57667126C>A", "CM000680.2:g.57667126C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 55334358, "referenceAllele": "C", "start": 55334357 } ], "hgvs": [ "NC_000018.9:g.55334358C>A", "CM000680.1:g.55334358C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 53485356, "referenceAllele": "C", "start": 53485355 } ], "hgvs": [ "NC_000018.8:g.53485356C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 140970, "referenceAllele": "G", "start": 140969 } ], "hgvs": [ "NG_007148.2:g.140970G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000501" }, { "coordinates": [ { "allele": "T", "end": 141697, "referenceAllele": "G", "start": 141696 } ], "hgvs": [ "NG_007148.3:g.141697G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616070" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2333, "referenceAllele": "G", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000642462.1:c.2251G>T" ], "proteinEffect": { "hgvs": "ENSP00000494712.1:p.Glu751Ter", "hgvsWellDefined": "ENSP00000494712.1:p.Glu751_Glu946delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysIleSerSerSerSerLeuMetTyrThrLysAsnIleProThrLeuSerSerSerThrGlyValSerCysMetThrCysProHisTrpArgTrpAsnLysTrpThrArgArgAsnAlaSerCysHisValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766759" }, { "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "G", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648039.1:c.2251G>T" ], "proteinEffect": { "hgvs": "ENSP00000497863.1:p.Glu751Ter", "hgvsWellDefined": "ENSP00000497863.1:p.Glu751_Glu946delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysIleSerSerSerSerLeuMetTyrThrLysAsnIleProThrLeuSerSerSerThrGlyValSerCysMetThrCysProHisTrpArgTrpAsnLysTrpThrArgArgAsnAlaSerCysHisValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769755" }, { "coordinates": [ { "allele": "T", "end": 2594, "referenceAllele": "G", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648908.2:c.2251G>T" ], "proteinEffect": { "hgvs": "ENSP00000497896.1:p.Glu751Ter", "hgvsWellDefined": "ENSP00000497896.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770250", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.2251G>T" }, "RefSeq": { "hgvs": "NM_001374385.1:c.2251G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Glu751Ter" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Glu751Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2251, "referenceAllele": "G", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000283684.8:c.2251G>T" ], "proteinEffect": { "hgvs": "ENSP00000283684.4:p.Glu751Ter", "hgvsWellDefined": "ENSP00000283684.4:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253179" }, { "coordinates": [ { "allele": "T", "end": 2371, "referenceAllele": "G", "start": 2370 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000536015.5:c.2251G>T" ], "proteinEffect": { "hgvs": "ENSP00000445359.1:p.Glu751Ter", "hgvsWellDefined": "ENSP00000445359.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360049" }, { "coordinates": [ { "allele": "A", "end": 711, "endIntronDirection": "-", "endIntronOffset": 879, "referenceAllele": "C", "start": 711, "startIntronDirection": "-", "startIntronOffset": 880 } ], "gene": "http://reg.genome.network/gene/GN056042", "geneNCBI_id": 100505549, "geneSymbol": "ATP8B1-AS1", "hgvs": [ "NM_001242804.1:c.140-880C>A" ], "proteinEffect": { "hgvs": "NP_001229733.1:n.140-880C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS018258" }, { "coordinates": [ { "allele": "T", "end": 2371, "referenceAllele": "G", "start": 2370 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.4:c.2251G>T" ], "proteinEffect": { "hgvs": "NP_005594.1:p.Glu751Ter", "hgvsWellDefined": "NP_005594.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuThrValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030690" }, { "coordinates": [ { "allele": "T", "end": 3101, "referenceAllele": "G", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.2:c.2251G>T" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Glu751Ter", "hgvsWellDefined": "XP_006722544.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074581" }, { "coordinates": [ { "allele": "T", "end": 2316, "referenceAllele": "G", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526020.1:c.2251G>T" ], "proteinEffect": { "hgvs": "XP_011524322.1:p.Glu751Ter", "hgvsWellDefined": "XP_011524322.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093128" }, { "coordinates": [ { "allele": "T", "end": 2295, "referenceAllele": "G", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526021.1:c.2251G>T" ], "proteinEffect": { "hgvs": "XP_011524323.1:p.Glu751Ter", "hgvsWellDefined": "XP_011524323.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093129" }, { "coordinates": [ { "allele": "T", "end": 2334, "referenceAllele": "G", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526022.1:c.2251G>T" ], "proteinEffect": { "hgvs": "XP_011524324.1:p.Glu751Ter", "hgvsWellDefined": "XP_011524324.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093130" }, { "coordinates": [ { "allele": "T", "end": 2987, "referenceAllele": "G", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.1:c.2137G>T" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Glu713Ter", "hgvsWellDefined": "XP_011524325.1:p.Glu713_Ser1213delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093131" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526024.1:c.1531G>T" ], "proteinEffect": { "hgvs": "XP_011524326.1:p.Glu511Ter", "hgvsWellDefined": "XP_011524326.1:p.Glu511_Ser1011delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093132" }, { "@id": "http://reg.genome.network/allele/PA916002597", "coordinates": [ { "allele": "T", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.6:c.2251G>T" ], "proteinEffect": { "hgvs": "NP_005594.2:p.Glu751Ter", "hgvsWellDefined": "NP_005594.2:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525329" }, { "coordinates": [ { "allele": "T", "end": 3101, "referenceAllele": "G", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.4:c.2251G>T" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Glu751Ter", "hgvsWellDefined": "XP_006722544.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540549" }, { "coordinates": [ { "allele": "T", "end": 2987, "referenceAllele": "G", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.3:c.2137G>T" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Glu713Ter", "hgvsWellDefined": "XP_011524325.1:p.Glu713_Ser1213delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548105" }, { "@id": "http://reg.genome.network/allele/PA2828509597", "coordinates": [ { "allele": "T", "end": 2594, "referenceAllele": "G", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374385.1:c.2251G>T" ], "proteinEffect": { "hgvs": "NP_001361314.1:p.Glu751Ter", "hgvsWellDefined": "NP_001361314.1:p.Glu751_Ser1251delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693251", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.2251G>T" }, "RefSeq": { "hgvs": "NM_001374385.1:c.2251G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Glu751Ter" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Glu751Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828510098", "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "G", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374386.1:c.2101G>T" ], "proteinEffect": { "hgvs": "NP_001361315.1:p.Glu701Ter", "hgvsWellDefined": "NP_001361315.1:p.Glu701_Ser1201delinsAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693252" }, { "coordinates": [ { "allele": "A", "end": 682, "endIntronDirection": "-", "endIntronOffset": 879, "referenceAllele": "C", "start": 682, "startIntronDirection": "-", "startIntronOffset": 880 } ], "gene": "http://reg.genome.network/gene/GN056042", "geneNCBI_id": 100505549, "geneSymbol": "ATP8B1-AS1", "hgvs": [ "NR_164148.1:n.683-880C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705709" } ], "type": "nucleotide" }