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"4-145639497-C-T", "variant": "4:145639497 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 145639497, "referenceAllele": "C", "start": 145639496 } ], "hgvs": [ "NC_000004.12:g.145639497C>T", "CM000666.2:g.145639497C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 146560649, "referenceAllele": "C", "start": 146560648 } ], "hgvs": [ "NC_000004.11:g.146560649C>T", "CM000666.1:g.146560649C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 146780099, "referenceAllele": "C", "start": 146780098 } ], "hgvs": [ "NC_000004.10:g.146780099C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 25200, "referenceAllele": "C", "start": 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"http://reg.genome.network/refseq/RS770693" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "ENST00000679563.1:c.358C>T" ], "proteinEffect": { "hgvs": "ENSP00000506503.1:p.Gln120Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS779191" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "ENST00000679930.1:c.358C>T" ], "proteinEffect": { "hgvs": "ENSP00000506293.1:p.Gln120Ter", "hgvsWellDefined": "ENSP00000506293.1:p.Gln120_Leu158delinsValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgAspCysLeuGlyProLeuValLeuGluAsnGlnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779552" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "ENST00000281317.9:c.358C>T" ], "proteinEffect": { "hgvs": "ENSP00000281317.5:p.Gln120Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS098716" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531685.1:c.358C>T" ], "proteinEffect": { "hgvs": "XP_011529987.1:p.Gln120Ter", "hgvsWellDefined": "XP_011529987.1:p.Gln120_Asp418delinsValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098717" }, { "@id": "http://reg.genome.network/allele/PA347889", "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "C", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "NM_172250.3:c.358C>T" ], "proteinEffect": { "hgvs": "NP_758454.1:p.Gln120Ter", "hgvsWellDefined": "NP_758454.1:p.Gln120_Asp418delinsValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649156.2:c.358C>T" }, "RefSeq": { "hgvs": "NM_172250.3:c.358C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497008.1:p.Gln120Ter" }, "RefSeq": { "hgvs": "NP_758454.1:p.Gln120Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531684.3:c.358C>T" ], "proteinEffect": { "hgvs": "XP_011529986.1:p.Gln120Ter", "hgvsWellDefined": "XP_011529986.1:p.Gln120_Asp418delinsValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550496" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531685.2:c.358C>T" ], "proteinEffect": { "hgvs": "XP_011529987.1:p.Gln120Ter", "hgvsWellDefined": "XP_011529987.1:p.Gln120_Asp418delinsValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550497" }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531686.2:c.-426C>T" ], "proteinEffect": { "hgvs": "XP_011529988.1:n.-426C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550498" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "NM_001375644.1:c.358C>T" ], "proteinEffect": { "hgvs": "NP_001362573.1:p.Gln120Ter", "hgvsWellDefined": "NP_001362573.1:p.Gln120_Asp418delinsValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693733" } ], "type": "nucleotide" }