{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360802901", "communityStandardTitle": [ "NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513554[alleleid]", "alleleId": 513554, "preferredName": "NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522874", "RCV": [ "RCV000626063" ], "variationId": 522874 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131706025C>T?assembly=hg19", "id": "chr5:g.131706025C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132370333C>T?assembly=hg38", "id": "chr5:g.132370333C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554086010", "rs": 1554086010 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 132370333, "referenceAllele": "C", "start": 132370332 } ], "hgvs": [ "NC_000005.10:g.132370333C>T", "CM000667.2:g.132370333C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 131706025, "referenceAllele": "C", "start": 131706024 } ], "hgvs": [ "NC_000005.9:g.131706025C>T", "CM000667.1:g.131706025C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 131733924, "referenceAllele": "C", "start": 131733923 } ], "hgvs": [ "NC_000005.8:g.131733924C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 5625, "referenceAllele": "C", "start": 5624 } ], "hgvs": [ "NG_008982.1:g.5625C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001353" }, { "coordinates": [ { "allele": "T", "end": 5630, "referenceAllele": "C", "start": 5629 } ], "hgvs": [ "NG_008982.2:g.5630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616121" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.6:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000388838.2:p.Gln121Ter", "hgvsWellDefined": "ENSP00000388838.2:p.Gln121_Glu431delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824654" }, { "coordinates": [ { "allele": "T", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.7:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Gln121Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Gln121_Phe581delinsAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824868" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000448810.6:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000401860.2:p.Gln121Ter", "hgvsWellDefined": "ENSP00000401860.2:p.Gln121_Gly353delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuCysAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824998" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000686757.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000510721.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000510721.1:p.Gln121_Pro284delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830725" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000687740.1:n.495C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831241" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000689271.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000510797.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000510797.1:p.Gln121_Phe506delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832084" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000690900.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000510703.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000510703.1:p.Gln121_Pro268delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832936" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692413.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000509374.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000509374.1:p.Gln121_Phe551delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833710" }, { "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692825.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000509447.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000509447.1:p.Gln121_Leu138delinsAspValTyrLeuSerThrIleValThrGluThrValGlyProThrMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833907" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693308.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000509770.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000509770.1:p.Gln121_Phe573delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyGlyLeuThrGluIleGlyProCysThrAlaArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834175" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693763.1:n.495C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834419" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.8:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Gln121Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Gln121_Phe557delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741243", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.361C>T" }, "RefSeq": { "hgvs": "NM_003060.4:c.361C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Gln121Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Gln121Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.7:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Gln121Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Gln121_Phe557delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249376" }, { "coordinates": [ { "allele": "T", "end": 58, "referenceAllele": "C", "start": 57 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.5:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000388838.1:p.Gln20Ter", "hgvsWellDefined": "ENSP00000388838.1:p.Gln20_Glu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS284222" }, { "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.6:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Gln121Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Gln121_Phe581delinsAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS293343" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000437841.6:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000400553.1:p.Gln121Ter", "hgvsWellDefined": "ENSP00000400553.1:p.Gln121_Val141delinsAspValTyrLeuSerThrIleValThrGluGlyGlnLysPheLeuAlaSerGlnPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294648" }, { "@id": "http://reg.genome.network/allele/PA2826924206", "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.1:c.361C>T" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Gln121Ter", "hgvsWellDefined": "NP_001295051.1:p.Gln121_Phe581delinsAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026154" }, { "@id": "http://reg.genome.network/allele/PA658807613", "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.3:c.361C>T" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Gln121Ter", "hgvsWellDefined": "NP_003051.1:p.Gln121_Phe557delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028339" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.1:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117842" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.1:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141868" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.1:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141869" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_011543590.2:c.-271C>T" ], "proteinEffect": { "hgvs": "XP_011541892.1:n.-271C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS555294" }, { "coordinates": [ { "allele": "T", "end": 28, "referenceAllele": "C", "start": 27 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_017009778.2:c.-64C>T" ], "proteinEffect": { "hgvs": "XP_016865267.1:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS563996" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742215.1:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591988" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742216.1:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591989" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.2:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606473" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.2:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614989" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.2:n.630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614990" }, { "@id": "http://reg.genome.network/allele/PA658807613", "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.4:c.361C>T" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Gln121Ter", "hgvsWellDefined": "NP_003051.1:p.Gln121_Phe557delinsAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695718", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.361C>T" }, "RefSeq": { "hgvs": "NM_003060.4:c.361C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Gln121Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Gln121Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826924206", "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.2:c.361C>T" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Gln121Ter", "hgvsWellDefined": "NP_001295051.1:p.Gln121_Phe581delinsAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717230" } ], "type": "nucleotide" }