{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338422098", "communityStandardTitle": [ "NM_005957.5(MTHFR):c.494G>A (p.Trp165Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11860361C>T?assembly=hg19", "id": "chr1:g.11860361C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11800304C>T?assembly=hg38", "id": "chr1:g.11800304C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1557767954", "rs": 1557767954 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11800304, "referenceAllele": "C", "start": 11800303 } ], "hgvs": [ "NC_000001.11:g.11800304C>T", "CM000663.2:g.11800304C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 11860361, "referenceAllele": "C", "start": 11860360 } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754979" }, { "coordinates": [ { "allele": "A", "end": 761, "referenceAllele": "G", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641407.1:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000493098.1:p.Trp165Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766063" }, { "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641437.1:n.1464G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766082" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000641446.1:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000493262.1:p.Trp165Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271231" }, { "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "G", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.5:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Trp206Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Trp206_Pro697delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271232" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Trp165Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271234" }, { "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.5:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Trp165Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "@id": "http://reg.genome.network/allele/PA2579899001", "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "G", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.494G>A", "LRG_726t1:c.494G>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Trp165Ter", "hgvsWellDefined": "NP_005948.3:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "A", "end": 1560, "referenceAllele": "G", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263458.2:c.617G>A" ], "proteinEffect": { "hgvs": "XP_005263515.1:p.Trp206Ter", "hgvsWellDefined": "XP_005263515.1:p.Trp206_Pro697delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063811" }, { "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "G", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.3:c.494G>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Trp165Ter", "hgvsWellDefined": "XP_005263517.1:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063812" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263461.3:c.494G>A" ], "proteinEffect": { "hgvs": "XP_005263518.1:p.Trp165Ter", "hgvsWellDefined": "XP_005263518.1:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063813" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.3:c.494G>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Trp165Ter", "hgvsWellDefined": "XP_005263519.1:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063814" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.2:c.248G>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Trp83Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063815" }, { "coordinates": [ { "allele": "A", "end": 1557, "referenceAllele": "G", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.1:c.614G>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Trp205Ter", "hgvsWellDefined": "XP_011539797.1:p.Trp205_Pro696delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108432" }, { "coordinates": [ { "allele": "A", "end": 1560, "referenceAllele": "G", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Trp206Ter", "hgvsWellDefined": "XP_011539798.1:p.Trp206_Ser683delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108433" }, { "@id": "http://reg.genome.network/allele/PA2573202131", "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "G", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.617G>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Trp206Ter", "hgvsWellDefined": "NP_001317287.1:p.Trp206_Pro697delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "A", "end": 1110, "referenceAllele": "G", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.5:c.494G>A" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Trp165Ter", "hgvsWellDefined": "XP_005263517.1:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535677" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.4:c.494G>A" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Trp165Ter", "hgvsWellDefined": "XP_005263519.1:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535678" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.4:c.248G>A" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Trp83Ter", "hgvsWellDefined": "XP_005263520.1:p.Trp83_Pro574delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535679" }, { "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.3:c.614G>A" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Trp205Ter", "hgvsWellDefined": "XP_011539797.1:p.Trp205_Pro696delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554458" }, { "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.3:c.617G>A" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Trp206Ter", "hgvsWellDefined": "XP_011539798.1:p.Trp206_Ser683delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554459" }, { "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_017001328.2:c.617G>A" ], "proteinEffect": { "hgvs": "XP_016856817.1:p.Trp206Ter", "hgvsWellDefined": "XP_016856817.1:p.Trp206_Pro647delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557530" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_024447198.1:c.248G>A" ], "proteinEffect": { "hgvs": "XP_024302966.1:p.Trp83Ter", "hgvsWellDefined": "XP_024302966.1:p.Trp83_Pro574delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580792" }, { "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XR_002956640.1:n.1361G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602779" }, { "@id": "http://reg.genome.network/allele/PA2579899001", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.494G>A" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Trp165Ter", "hgvsWellDefined": "NP_005948.3:p.Trp165_Pro656delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.494G>A" }, "RefSeq": { "hgvs": "NM_005957.5:c.494G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Trp165Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Trp165Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573202131", "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.617G>A" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Trp206Ter", "hgvsWellDefined": "NP_001317287.1:p.Trp206_Pro697delinsGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }