{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129172", "communityStandardTitle": [ "NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39342[alleleid]", "alleleId": 39342, "preferredName": "NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30385", "RCV": [ "RCV000023336", "RCV000023335" ], "variationId": 30385 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-89052957-G-A", "id": "4-89052957-G-A", "variant": "4:89052957 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.89052957G>A?assembly=hg19", "id": "chr4:g.89052957G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.88131805G>A?assembly=hg38", "id": "chr4:g.88131805G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/72552713", "rs": 72552713 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-89052957-G-A?dataset=gnomad_r2_1", "id": "4-89052957-G-A", "variant": "4:89052957 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-88131805-G-A?dataset=gnomad_r3", "id": "4-88131805-G-A", "variant": "4:88131805 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-88131805-G-A?dataset=gnomad_r4", "id": "4-88131805-G-A", "variant": "4:88131805 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 88131805, "referenceAllele": "G", "start": 88131804 } ], "hgvs": [ "NC_000004.12:g.88131805G>A", "CM000666.2:g.88131805G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 89052957, "referenceAllele": "G", "start": 89052956 } ], "hgvs": [ "NC_000004.11:g.89052957G>A", "CM000666.1:g.89052957G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 89271981, "referenceAllele": "G", "start": 89271980 } ], "hgvs": [ "NC_000004.10:g.89271981G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 104518, "referenceAllele": "C", "start": 104517 } ], "hgvs": [ "NG_032067.2:g.104518C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005113" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "ENST00000237612.8:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000237612.3:p.Gln126Ter", "hgvsWellDefined": "ENSP00000237612.3:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741005", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000237612.8:c.376C>T" }, "RefSeq": { "hgvs": "NM_004827.3:c.376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000237612.3:p.Gln126Ter" }, "RefSeq": { "hgvs": "NP_004818.2:p.Gln126Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "ENST00000650821.1:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000498246.1:p.Gln126Ter", "hgvsWellDefined": "ENSP00000498246.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771331" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "ENST00000237612.7:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000237612.3:p.Gln126Ter", "hgvsWellDefined": "ENSP00000237612.3:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249011" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "ENST00000515655.5:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000426917.1:p.Gln126Ter", "hgvsWellDefined": "ENSP00000426917.1:p.Gln126_Trp611delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetValCysTrpSerIleSerGlnProLeuHisLeuGlyCysHisGlyPheSerThrSerAlaPheHisAspMetAspLeuArgLeuCysSerIleMetAsnPheTrpAspLysThrSerAlaGlnAspSerMetGlnGlnGluThrIleLeuValThrMetGlnHisValLeuAlaLysAsnIleTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS344831" }, { "@id": "http://reg.genome.network/allele/PA2826444290", "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001257386.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001244315.1:p.Gln126Ter", "hgvsWellDefined": "NP_001244315.1:p.Gln126_Trp611delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetValCysTrpSerIleSerGlnProLeuHisLeuGlyCysHisGlyPheSerThrSerAlaPheHisAspMetAspLeuArgLeuCysSerIleMetAsnPheTrpAspLysThrSerAlaGlnAspSerMetGlnGlnGluThrIleLeuValThrMetGlnHisValLeuAlaLysAsnIleTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019621" }, { "@id": "http://reg.genome.network/allele/PA129173", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_004827.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_004818.2:p.Gln126Ter", "hgvsWellDefined": "NP_004818.2:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029972" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_005263354.2:c.376C>T" ], "proteinEffect": { "hgvs": "XP_005263411.1:p.Gln126Ter", "hgvsWellDefined": "XP_005263411.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063778" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_005263355.2:c.376C>T" ], "proteinEffect": { "hgvs": "XP_005263412.1:p.Gln126Ter", "hgvsWellDefined": "XP_005263412.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063779" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_005263356.2:c.376C>T" ], "proteinEffect": { "hgvs": "XP_005263413.1:p.Gln126Ter", "hgvsWellDefined": "XP_005263413.1:p.Gln126_Ser653delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063780" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_011532420.1:c.376C>T" ], "proteinEffect": { "hgvs": "XP_011530722.1:p.Gln126Ter", "hgvsWellDefined": "XP_011530722.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099447" }, { "@id": "http://reg.genome.network/allele/PA2826444290", "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001257386.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001244315.1:p.Gln126Ter", "hgvsWellDefined": "NP_001244315.1:p.Gln126_Trp611delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetValCysTrpSerIleSerGlnProLeuHisLeuGlyCysHisGlyPheSerThrSerAlaPheHisAspMetAspLeuArgLeuCysSerIleMetAsnPheTrpAspLysThrSerAlaGlnAspSerMetGlnGlnGluThrIleLeuValThrMetGlnHisValLeuAlaLysAsnIleTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511986" }, { "@id": "http://reg.genome.network/allele/PA2827459237", "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "C", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001348985.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001335914.1:p.Gln126Ter", "hgvsWellDefined": "NP_001335914.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518370" }, { "@id": "http://reg.genome.network/allele/PA2827459302", "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001348986.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001335915.1:p.Gln126Ter", "hgvsWellDefined": "NP_001335915.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518371" }, { "@id": "http://reg.genome.network/allele/PA2827459364", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001348987.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001335916.1:p.Gln126Ter", "hgvsWellDefined": "NP_001335916.1:p.Gln126_Ser653delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518372" }, { "@id": "http://reg.genome.network/allele/PA2827459418", "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001348988.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001335917.1:p.Gln126Ter", "hgvsWellDefined": "NP_001335917.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518373" }, { "@id": "http://reg.genome.network/allele/PA2827459454", "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001348989.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001335918.1:p.Gln126Ter", "hgvsWellDefined": "NP_001335918.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518374" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_005263355.4:c.376C>T" ], "proteinEffect": { "hgvs": "XP_005263412.1:p.Gln126Ter", "hgvsWellDefined": "XP_005263412.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535656" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_011532420.3:c.376C>T" ], "proteinEffect": { "hgvs": "XP_011530722.1:p.Gln126Ter", "hgvsWellDefined": "XP_011530722.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550817" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "XM_017008852.2:c.376C>T" ], "proteinEffect": { "hgvs": "XP_016864341.1:p.Gln126Ter", "hgvsWellDefined": "XP_016864341.1:p.Gln126_Ser653delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563298" }, { "@id": "http://reg.genome.network/allele/PA129173", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_004827.3:c.376C>T" ], "proteinEffect": { "hgvs": "NP_004818.2:p.Gln126Ter", "hgvsWellDefined": "NP_004818.2:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000237612.8:c.376C>T" }, "RefSeq": { "hgvs": "NM_004827.3:c.376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000237612.3:p.Gln126Ter" }, "RefSeq": { "hgvs": "NP_004818.2:p.Gln126Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827459454", "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN000074", "geneNCBI_id": 9429, "geneSymbol": "ABCG2", "hgvs": [ "NM_001348989.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001335918.1:p.Gln126Ter", "hgvsWellDefined": "NP_001335918.1:p.Gln126_Ser655delinsAspAspValValMetGlyThrLeuThrValArgGluAsnLeuGlnPheSerAlaAlaLeuArgLeuAlaThrThrMetThrAsnHisGluLysAsnGluArgIleAsnArgValIleGlnGluLeuGlyLeuAspLysValAlaAspSerLysValGlyThrGlnPheIleArgGlyValSerGlyGlyGluArgLysArgThrSerIleGlyMetGluLeuIleThrAspProSerIleLeuPheLeuAspGluProThrThrGlyLeuAspSerSerThrAlaAsnAlaValLeuLeuLeuLeuLysArgMetSerLysGlnGlyArgThrIleIlePheSerIleHisGlnProArgTyrSerIlePheLysLeuPheAspSerLeuThrLeuLeuAlaSerGlyArgLeuMetPheHisGlyProAlaGlnGluAlaLeuGlyTyrPheGluSerAlaGlyTyrHisCysGluAlaTyrAsnAsnProAlaAspPhePheLeuAspIleIleAsnGlyAspSerThrAlaValAlaLeuAsnArgGluGluAspPheLysAlaThrGluIleIleGluProSerLysGlnAspLysProLeuIleGluLysLeuAlaGluIleTyrValAsnSerSerPheTyrLysGluThrLysAlaGluLeuHisGlnLeuSerGlyGlyGluLysLysLysLysIleThrValPheLysGluIleSerTyrThrThrSerPheCysHisGlnLeuArgTrpValSerLysArgSerPheLysAsnLeuLeuGlyAsnProGlnAlaSerIleAlaGlnIleIleValThrValValLeuGlyLeuValIleGlyAlaIleTyrPheGlyLeuLysAsnAspSerThrGlyIleGlnAsnArgAlaGlyValLeuPhePheLeuThrThrAsnGlnCysPheSerSerValSerAlaValGluLeuPheValValGluLysLysLeuPheIleHisGluTyrIleSerGlyTyrTyrArgValSerSerTyrPheLeuGlyLysLeuLeuSerAspLeuLeuProMetArgMetLeuProSerIleIlePheThrCysIleValTyrPheMetLeuGlyLeuLysProLysAlaAspAlaPhePheValMetMetPheThrLeuMetMetValAlaTyrSerAlaSerSerMetAlaLeuAlaIleAlaAlaGlyGlnSerValValSerValAlaThrLeuLeuMetThrIleCysPheValPheMetMetIlePheSerGlyLeuLeuValAsnLeuThrThrIleAlaSerTrpLeuSerTrpLeuGlnTyrPheSerIleProArgTyrGlyPheThrAlaLeuGlnHisAsnGluPheLeuGlyGlnAsnPheCysProGlyLeuAsnAlaThrGlyAsnAsnProCysAsnTyrAlaThrCysThrGlyGluGluTyrLeuValLysGlnGlyIleAspLeuSerProTrpGlyLeuTrpLysAsnHisValAlaLeuAlaCysMetIleValIlePheLeuThrIleAlaTyrLeuLysLeuLeuPheLeuLysLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719203" } ], "type": "nucleotide" }