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"http://reg.genome.network/refseq/RS571050" }, { "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "G", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "XM_017019314.1:c.563G>A" ], "proteinEffect": { "hgvs": "XP_016874803.1:p.Trp188Ter", "hgvsWellDefined": "XP_016874803.1:p.Trp188_Leu396delinsAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571051" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "G", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "XM_024448982.1:c.563G>A" ], "proteinEffect": { "hgvs": "XP_024304750.1:p.Trp188Ter", "hgvsWellDefined": "XP_024304750.1:p.Trp188_Phe389delinsAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluValArgAlaCysLeuGlnGluProGlyLeuLeuSerProHisHisCysProArgGlnTrpLeuCysAsnLeuAlaValLeuArgIleProArgLysLeuAlaHisArgGlyGlnAspLeuProLeuAlaTyrAlaLeuSerTrpAlaGlnValCysAlaCysHisIleSerValSerTyrPheGlnAlaSerSerTrpValIleProSerAsnTrpGluSerAlaArgGluAlaArgAlaTrpLeuValLeuSerAlaMetGluThrGlyLeuGlyHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582547" }, { "@id": "http://reg.genome.network/allele/PA149847", "coordinates": [ { "allele": "A", "end": 657, "referenceAllele": "G", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_000431.4:c.563G>A" ], "proteinEffect": { "hgvs": "NP_000422.1:p.Trp188Ter", "hgvsWellDefined": "NP_000422.1:p.Trp188_Leu396delinsAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662441", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000228510.8:c.563G>A" }, "RefSeq": { "hgvs": "NM_000431.4:c.563G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000228510.3:p.Trp188Ter" }, "RefSeq": { "hgvs": "NP_000422.1:p.Trp188Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915975937", "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "G", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_001114185.3:c.563G>A" ], "proteinEffect": { "hgvs": "NP_001107657.1:p.Trp188Ter", "hgvsWellDefined": "NP_001107657.1:p.Trp188_Leu396delinsAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676743" }, { "@id": "http://reg.genome.network/allele/PA2826866246", "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "G", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN007530", "geneNCBI_id": 4598, "geneSymbol": "MVK", "hgvs": [ "NM_001301182.2:c.407G>A" ], "proteinEffect": { "hgvs": "NP_001288111.1:p.Trp136Ter", "hgvsWellDefined": "NP_001288111.1:p.Trp136_Leu344delinsAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683373" } ], "type": "nucleotide" }