{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338480540", "communityStandardTitle": [ "NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3058313[alleleid]", "alleleId": 3058313, "preferredName": "NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2902718", "RCV": [ "RCV003636670" ], "variationId": 2902718 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11856265G>A?assembly=hg19", "id": "chr1:g.11856265G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11796208G>A?assembly=hg38", "id": "chr1:g.11796208G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2522894898", "rs": 2522894898 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-11796208-G-A?dataset=gnomad_r4", "id": "1-11796208-G-A", "variant": "1:11796208 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11796208, "referenceAllele": "G", "start": 11796207 } ], "hgvs": [ "NC_000001.11:g.11796208G>A", "CM000663.2:g.11796208G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11856265, "referenceAllele": "G", "start": 11856264 } ], "hgvs": [ "NC_000001.10:g.11856265G>A", "CM000663.1:g.11856265G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 11778852, "referenceAllele": "G", "start": 11778851 } ], "hgvs": [ "NC_000001.9:g.11778852G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 14896, "referenceAllele": "C", "start": 14895 } ], 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"ENSP00000365767.3:p.Gln301_Pro697delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271231" }, { "coordinates": [ { "allele": "T", "end": 1953, "referenceAllele": "C", "start": 1952 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376585.5:c.901C>T" ], "proteinEffect": { "hgvs": "ENSP00000365770.1:p.Gln301Ter", "hgvsWellDefined": "ENSP00000365770.1:p.Gln301_Pro697delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271232" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.778C>T" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Gln260Ter", "hgvsWellDefined": "ENSP00000365775.3:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271234" }, { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376592.5:c.778C>T" ], "proteinEffect": { "hgvs": "ENSP00000365777.1:p.Gln260Ter", "hgvsWellDefined": "ENSP00000365777.1:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "@id": "http://reg.genome.network/allele/PA2579900884", "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.778C>T", "LRG_726t1:c.778C>T" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Gln260Ter", "hgvsWellDefined": "NP_005948.3:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263458.2:c.901C>T" ], "proteinEffect": { "hgvs": "XP_005263515.1:p.Gln301Ter", "hgvsWellDefined": "XP_005263515.1:p.Gln301_Pro697delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063811" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.3:c.778C>T" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Gln260Ter", "hgvsWellDefined": "XP_005263517.1:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063812" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "C", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263461.3:c.778C>T" ], "proteinEffect": { "hgvs": "XP_005263518.1:p.Gln260Ter", "hgvsWellDefined": "XP_005263518.1:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063813" }, { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.3:c.778C>T" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Gln260Ter", "hgvsWellDefined": "XP_005263519.1:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063814" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.2:c.532C>T" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Gln178Ter", "hgvsWellDefined": "XP_005263520.1:p.Gln178_Pro574delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063815" }, { "coordinates": [ { "allele": "T", "end": 1841, "referenceAllele": "C", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539797.1:p.Gln300_Pro696delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108432" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.1:c.901C>T" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Gln301Ter", "hgvsWellDefined": "XP_011539798.1:p.Gln301_Ser683delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108433" }, { "@id": "http://reg.genome.network/allele/PA2741857970", "coordinates": [ { "allele": "T", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.901C>T" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Gln301Ter", "hgvsWellDefined": "NP_001317287.1:p.Gln301_Pro697delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "T", "end": 1394, "referenceAllele": "C", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.5:c.778C>T" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Gln260Ter", "hgvsWellDefined": "XP_005263517.1:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535677" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.4:c.778C>T" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Gln260Ter", "hgvsWellDefined": "XP_005263519.1:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535678" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.4:c.532C>T" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Gln178Ter", "hgvsWellDefined": "XP_005263520.1:p.Gln178_Pro574delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535679" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.3:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539797.1:p.Gln300_Pro696delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554458" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.3:c.901C>T" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Gln301Ter", "hgvsWellDefined": "XP_011539798.1:p.Gln301_Ser683delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554459" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_017001328.2:c.901C>T" ], "proteinEffect": { "hgvs": "XP_016856817.1:p.Gln301Ter", "hgvsWellDefined": "XP_016856817.1:p.Gln301_Pro647delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557530" }, { "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_024447198.1:c.532C>T" ], "proteinEffect": { "hgvs": "XP_024302966.1:p.Gln178Ter", "hgvsWellDefined": "XP_024302966.1:p.Gln178_Pro574delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580792" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XR_002956640.1:n.1645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602779" }, { "@id": "http://reg.genome.network/allele/PA2579900884", "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.778C>T" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Gln260Ter", "hgvsWellDefined": "NP_005948.3:p.Gln260_Pro656delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.778C>T" }, "RefSeq": { "hgvs": "NM_005957.5:c.778C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Gln260Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Gln260Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741857970", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.901C>T" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Gln301Ter", "hgvsWellDefined": "NP_001317287.1:p.Gln301_Pro697delinsGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }