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], "proteinEffect": { "hgvs": "XP_011529988.1:p.Arg31Ter", "hgvsWellDefined": "XP_011529988.1:p.Arg31_Asp253delinsMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098718" }, { "@id": "http://reg.genome.network/allele/PA658670346", "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "NM_172250.3:c.586C>T" ], "proteinEffect": { "hgvs": "NP_758454.1:p.Arg196Ter", "hgvsWellDefined": "NP_758454.1:p.Arg196_Asp418delinsMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649156.2:c.586C>T" }, "RefSeq": { "hgvs": "NM_172250.3:c.586C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497008.1:p.Arg196Ter" }, "RefSeq": { "hgvs": "NP_758454.1:p.Arg196Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "C", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531684.3:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011529986.1:p.Arg196Ter", "hgvsWellDefined": "XP_011529986.1:p.Arg196_Asp418delinsMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550496" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531685.2:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011529987.1:p.Arg196Ter", "hgvsWellDefined": "XP_011529987.1:p.Arg196_Asp418delinsMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550497" }, { "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531686.2:c.91C>T" ], "proteinEffect": { "hgvs": "XP_011529988.1:p.Arg31Ter", "hgvsWellDefined": "XP_011529988.1:p.Arg31_Asp253delinsMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550498" }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "NM_001375644.1:c.586C>T" ], "proteinEffect": { "hgvs": "NP_001362573.1:p.Arg196Ter", "hgvsWellDefined": "NP_001362573.1:p.Arg196_Asp418delinsMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693733" } ], "type": "nucleotide" }