{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351540583", "communityStandardTitle": [ "NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835487[alleleid]", "alleleId": 2835487, "preferredName": "NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2679639", "RCV": [ "RCV003466560" ], "variationId": 2679639 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14200047C>A?assembly=hg19", "id": "chr3:g.14200047C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14158547C>A?assembly=hg38", "id": "chr3:g.14158547C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1696028787", "rs": 1696028787 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14158547, "referenceAllele": "C", "start": 14158546 } ], "hgvs": [ "NC_000003.12:g.14158547C>A", "CM000665.2:g.14158547C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14200047, "referenceAllele": "C", "start": 14200046 } ], "hgvs": [ "NC_000003.11:g.14200047C>A", "CM000665.1:g.14200047C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14175051, "referenceAllele": "C", "start": 14175050 } ], "hgvs": [ "NC_000003.10:g.14175051C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 25126, "referenceAllele": "G", "start": 25125 } ], "hgvs": [ "NG_011763.1:g.25126G>T", "LRG_472:g.25126G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001956" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.12:c.1336G>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.8:p.Glu446Ter", "hgvsWellDefined": "ENSP00000285021.8:p.Glu446_Leu940delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743792", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.1336G>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.1336G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Glu446Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Glu446Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.11:c.1336G>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.7:p.Glu446Ter", "hgvsWellDefined": "ENSP00000285021.7:p.Glu446_Leu940delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253275" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000476581.6:c.*789G>T" ], "proteinEffect": { "hgvs": "ENSP00000424548.1:n.*789G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317599" }, { "@id": "http://reg.genome.network/allele/PA2741916095", "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.4:c.1336G>T", "LRG_472t1:c.1336G>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Glu446Ter", "hgvsWellDefined": "NP_004619.3:p.Glu446_Leu940delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029783" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_027299.1:n.1316G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047665" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534092.1:c.1336G>T" ], "proteinEffect": { "hgvs": "XP_011532394.1:p.Glu446Ter", "hgvsWellDefined": "XP_011532394.1:p.Glu446_Leu851delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluAlaAlaSerValCysSerGlnAlaLeuProSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101110" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534093.1:c.1336G>T" ], "proteinEffect": { "hgvs": "XP_011532395.1:p.Glu446Ter", "hgvsWellDefined": "XP_011532395.1:p.Glu446_Pro689delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgLysMetSerArgCysCysLeuProValAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101111" }, { "@id": "http://reg.genome.network/allele/PA2827927152", "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.1:c.757G>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Glu253Ter", "hgvsWellDefined": "NP_001341655.1:p.Glu253_Leu747delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522642" }, { "@id": "http://reg.genome.network/allele/PA2827927720", "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.1:c.1336G>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Glu446Ter", "hgvsWellDefined": "NP_001341656.1:p.Glu446_Leu938delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522643" }, { "@id": "http://reg.genome.network/allele/PA2827928235", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.1:c.1318G>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Glu440Ter", "hgvsWellDefined": "NP_001341658.1:p.Glu440_Leu934delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522644" }, { "@id": "http://reg.genome.network/allele/PA2827928801", "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.1:c.1336G>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Glu446Ter", "hgvsWellDefined": "NP_001341659.1:p.Glu446_Leu858delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522645" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.1:n.1440G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531398" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.1:n.1316G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531399" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_001740256.2:n.1369G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590467" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959580.1:n.1369G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605512" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959581.1:n.1369G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605513" }, { "@id": "http://reg.genome.network/allele/PA2827927720", "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.2:c.1336G>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Glu446Ter", "hgvsWellDefined": "NP_001341656.1:p.Glu446_Leu938delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690308" }, { "@id": "http://reg.genome.network/allele/PA2741916095", "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.5:c.1336G>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Glu446Ter", "hgvsWellDefined": "NP_004619.3:p.Glu446_Leu940delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.1336G>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.1336G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Glu446Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Glu446Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.2:n.1369G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704894" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.2:n.1245G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704895" }, { "@id": "http://reg.genome.network/allele/PA2827927152", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.2:c.757G>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Glu253Ter", "hgvsWellDefined": "NP_001341655.1:p.Glu253_Leu747delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928235", "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.2:c.1318G>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Glu440Ter", "hgvsWellDefined": "NP_001341658.1:p.Glu440_Leu934delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928801", "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.1336G>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Glu446Ter", "hgvsWellDefined": "NP_001341659.1:p.Glu446_Leu858delinsLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }