{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4884470", "communityStandardTitle": [ "NM_003235.5(TG):c.5386C>T (p.Gln1796Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=313175[alleleid]", "alleleId": 313175, "preferredName": "NM_003235.5(TG):c.5386C>T (p.Gln1796Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/361975", "RCV": [ "RCV000363367", "RCV003556365" ], "variationId": 361975 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-133961173-C-T", "id": "8-133961173-C-T", "variant": "8:133961173 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.133961173C>T?assembly=hg19", "id": "chr8:g.133961173C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.132948928C>T?assembly=hg38", "id": "chr8:g.132948928C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/754658907", "rs": 754658907 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-133961173-C-T?dataset=gnomad_r2_1", "id": "8-133961173-C-T", "variant": "8:133961173 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-132948928-C-T?dataset=gnomad_r3", "id": "8-132948928-C-T", "variant": "8:132948928 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-132948928-C-T?dataset=gnomad_r4", "id": "8-132948928-C-T", "variant": "8:132948928 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 132948928, "referenceAllele": "C", "start": 132948927 } ], "hgvs": [ "NC_000008.11:g.132948928C>T", "CM000670.2:g.132948928C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 133961173, "referenceAllele": "C", "start": 133961172 } ], "hgvs": [ "NC_000008.10:g.133961173C>T", "CM000670.1:g.133961173C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 134030355, "referenceAllele": "C", "start": 134030354 } ], "hgvs": [ "NC_000008.9:g.134030355C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 86969, "referenceAllele": "C", "start": 86968 } ], "hgvs": [ "NG_015832.1:g.86969C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002864" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5429, "referenceAllele": "C", "start": 5428 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "ENST00000220616.9:c.5386C>T" ], "proteinEffect": { "hgvs": "ENSP00000220616.4:p.Gln1796Ter", "hgvsWellDefined": "ENSP00000220616.4:p.Gln1796_Lys2768delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000220616.9:c.5386C>T" }, "RefSeq": { "hgvs": "NM_003235.5:c.5386C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000220616.4:p.Gln1796Ter" }, "RefSeq": { "hgvs": "NP_003226.4:p.Gln1796Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5426, "referenceAllele": "C", "start": 5425 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "ENST00000220616.8:c.5386C>T" ], "proteinEffect": { "hgvs": "ENSP00000220616.4:p.Gln1796Ter", "hgvsWellDefined": "ENSP00000220616.4:p.Gln1796_Lys2768delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248233" }, { "coordinates": [ { "allele": "T", "end": 752, "referenceAllele": "C", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "ENST00000519178.5:c.752C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS346471" }, { "coordinates": [ { "allele": "T", "end": 2041, "referenceAllele": "C", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "ENST00000523756.5:c.2041C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350062" }, { "@id": "http://reg.genome.network/allele/PA645500231", "coordinates": [ { "allele": "T", "end": 5427, "referenceAllele": "C", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "NM_003235.4:c.5386C>T" ], "proteinEffect": { "hgvs": "NP_003226.4:p.Gln1796Ter", "hgvsWellDefined": "NP_003226.4:p.Gln1796_Lys2768delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028490" }, { "coordinates": [ { "allele": "T", "end": 5259, "referenceAllele": "C", "start": 5258 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251038.3:c.5194C>T" ], "proteinEffect": { "hgvs": "XP_005251095.1:p.Gln1732Ter", "hgvsWellDefined": "XP_005251095.1:p.Gln1732_Lys2704delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059397" }, { "coordinates": [ { "allele": "T", "end": 5452, "referenceAllele": "C", "start": 5451 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251040.3:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_005251097.1:p.Gln1796Ter", "hgvsWellDefined": "XP_005251097.1:p.Gln1796_Met2178delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysGlyIleMetLysValCysTrpGlyProGluArgLeuPheLeuProGluArgPheGlnAsnValThrValTyrProSerGlnProValGlnValTrpLysProProLeuLeuPheProSerTyrSerIlePheArgSerAsnHisLeuMetSerAlaGluGlnLeuLysGluIleProLeuGlyPheAspCysGlyLysLysGlyGluAspProGluAspPheTrpMetProTrpThrHisCysLeuPheLeuMetSerProLysLysValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059398" }, { "coordinates": [ { "allele": "T", "end": 5451, "referenceAllele": "C", "start": 5450 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251042.3:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_005251099.1:p.Gln1796Ter", "hgvsWellDefined": "XP_005251099.1:p.Gln1796_Val2121delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysAspLysCysThrLeuHisLeuLysArgLeuThrProThrLysProAlaArgLeuLeuGlnValSerLeuSerTyrLeuLeuGlnCysTrpSerLeuProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059399" }, { "coordinates": [ { "allele": "T", "end": 5451, "referenceAllele": "C", "start": 5450 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251043.3:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_005251100.1:p.Gln1796Ter", "hgvsWellDefined": "XP_005251100.1:p.Gln1796_Glu2103delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValPheLysValArgGluValArgGlyThrGlnLeuLysArgMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059400" }, { "coordinates": [ { "allele": "T", "end": 5450, "referenceAllele": "C", "start": 5449 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_006716622.2:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_006716685.1:p.Gln1796Ter", "hgvsWellDefined": "XP_006716685.1:p.Gln1796_Lys2747delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProMetSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071771" }, { "coordinates": [ { "allele": "T", "end": 5252, "referenceAllele": "C", "start": 5251 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251038.4:c.5194C>T" ], "proteinEffect": { "hgvs": "XP_005251095.1:p.Gln1732Ter", "hgvsWellDefined": "XP_005251095.1:p.Gln1732_Lys2704delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533541" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251040.4:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_005251097.1:p.Gln1796Ter", "hgvsWellDefined": "XP_005251097.1:p.Gln1796_Met2178delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysGlyIleMetLysValCysTrpGlyProGluArgLeuPheLeuProGluArgPheGlnAsnValThrValTyrProSerGlnProValGlnValTrpLysProProLeuLeuPheProSerTyrSerIlePheArgSerAsnHisLeuMetSerAlaGluGlnLeuLysGluIleProLeuGlyPheAspCysGlyLysLysGlyGluAspProGluAspPheTrpMetProTrpThrHisCysLeuPheLeuMetSerProLysLysValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533542" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_005251042.4:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_005251099.1:p.Gln1796Ter", "hgvsWellDefined": "XP_005251099.1:p.Gln1796_Val2121delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysAspLysCysThrLeuHisLeuLysArgLeuThrProThrLysProAlaArgLeuLeuGlnValSerLeuSerTyrLeuLeuGlnCysTrpSerLeuProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533543" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_006716622.3:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_006716685.1:p.Gln1796Ter", "hgvsWellDefined": "XP_006716685.1:p.Gln1796_Lys2747delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProMetSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539211" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013793.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_016869282.1:p.Gln1796Ter", "hgvsWellDefined": "XP_016869282.1:p.Gln1796_Lys2746delinsGluPheIleLysAsnSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566952" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013794.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_016869283.1:p.Gln1796Ter", "hgvsWellDefined": "XP_016869283.1:p.Gln1796_Lys2723delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlyArgAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566953" }, { "coordinates": [ { "allele": "T", "end": 5273, "referenceAllele": "C", "start": 5272 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013795.1:c.5215C>T" ], "proteinEffect": { "hgvs": "XP_016869284.1:p.Gln1739Ter", "hgvsWellDefined": "XP_016869284.1:p.Gln1739_Lys2711delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566954" }, { "coordinates": [ { "allele": "T", "end": 5225, "referenceAllele": "C", "start": 5224 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013796.1:c.5167C>T" ], "proteinEffect": { "hgvs": "XP_016869285.1:p.Gln1723Ter", "hgvsWellDefined": "XP_016869285.1:p.Gln1723_Lys2695delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566955" }, { "coordinates": [ { "allele": "T", "end": 5338, "referenceAllele": "C", "start": 5337 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013797.1:c.5125C>T" ], "proteinEffect": { "hgvs": "XP_016869286.1:p.Gln1709Ter", "hgvsWellDefined": "XP_016869286.1:p.Gln1709_Lys2681delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566956" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013798.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_016869287.1:p.Gln1796Ter", "hgvsWellDefined": "XP_016869287.1:p.Gln1796_Pro2445delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetValArgAsnTrpLysLeuArgLysThrLysGluIleGlyLysMetAlaMetGlyArgAlaGlyIleLysThrProValTyrLeuGluGlnGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566957" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013799.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_016869288.1:p.Gln1796Ter", "hgvsWellDefined": "XP_016869288.1:p.Gln1796_Ser2140delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysAspSerHisValProGlyGlnThrAsnAsnSerMetPheSerLysArgLeuGlyGluHisThrArgTyrLeuSerSerPheProLeuCysLeuSerPheTrpArgIleThrGlyArgTrpTrpPheGlnLeuLysGlyPheLeuAlaIlePheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566958" }, { "coordinates": [ { "allele": "T", "end": 5444, "referenceAllele": "C", "start": 5443 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "XM_017013800.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_016869289.1:p.Gln1796Ter", "hgvsWellDefined": "XP_016869289.1:p.Gln1796_Glu2103delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValPheLysValArgGluValArgGlyThrGlnLeuLysArgMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566959" }, { "@id": "http://reg.genome.network/allele/PA645500231", "coordinates": [ { "allele": "T", "end": 5429, "referenceAllele": "C", "start": 5428 } ], "gene": "http://reg.genome.network/gene/GN011764", "geneNCBI_id": 7038, "geneSymbol": "TG", "hgvs": [ "NM_003235.5:c.5386C>T" ], "proteinEffect": { "hgvs": "NP_003226.4:p.Gln1796Ter", "hgvsWellDefined": "NP_003226.4:p.Gln1796_Lys2768delinsGluPheIleLysSerLeuThrProLeuGluGlyThrGlnAspThrPheThrAsnPheGlnGlnValTyrLeuTrpLysAspSerAspMetGlySerArgProGluSerMetGlyCysArgLysAspThrValProArgProAlaSerProThrGluAlaGlyLeuThrThrGluLeuPheSerProValAspLeuAsnGlnValIleValAsnGlyAsnGlnSerLeuSerSerGlnLysHisTrpLeuPheLysHisLeuPheSerAlaGlnGlnAlaAsnLeuTrpCysLeuSerArgCysValGlnGluHisSerPheCysGlnLeuAlaGluIleThrGluSerAlaSerLeuTyrPheThrCysThrLeuTyrProGluAlaGlnValCysAspAspIleMetGluSerAsnAlaGlnGlyCysArgLeuIleLeuProGlnMetProLysAlaLeuPheArgLysLysValIleLeuGluAspLysValLysAsnPheTyrThrArgLeuProPheGlnLysLeuMetGlyIleSerIleArgAsnLysValProMetSerGluLysSerIleSerAsnGlyPhePheGluCysGluArgArgCysAspAlaAspProCysCysThrGlyPheGlyPheLeuAsnValSerGlnLeuLysGlyGlyGluValThrCysLeuThrLeuAsnSerLeuGlyIleGlnMetCysSerGluGluAsnGlyGlyAlaTrpArgIleLeuAspCysGlySerProAspIleGluValHisThrTyrProPheGlyTrpTyrGlnLysProIleAlaGlnAsnAsnAlaProSerPheCysProLeuValValLeuProSerLeuThrGluLysValSerLeuAspSerTrpGlnSerLeuAlaLeuSerSerValValValAspProSerIleArgHisPheAspValAlaHisValSerThrAlaAlaThrSerAsnPheSerAlaValArgAspLeuCysLeuSerGluCysSerGlnHisGluAlaCysLeuIleThrThrLeuGlnThrGlnProGlyAlaValArgCysMetPheTyrAlaAspThrGlnSerCysThrHisSerLeuGlnGlyGlnAsnCysArgLeuLeuLeuArgGluGluAlaThrHisIleTyrArgLysProGlyIleSerLeuLeuSerTyrGluAlaSerValProSerValProIleSerThrHisGlyArgLeuLeuGlyArgSerGlnAlaIleGlnValGlyThrSerTrpLysGlnValAspGlnPheLeuGlyValProTyrAlaAlaProProLeuAlaGluArgArgPheGlnAlaProGluProLeuAsnTrpThrGlySerTrpAspAlaSerLysProArgAlaSerCysTrpGlnProGlyThrArgThrSerThrSerProGlyValSerGluAspCysLeuTyrLeuAsnValPheIleProGlnAsnValAlaProAsnAlaSerValLeuValPhePheHisAsnThrMetAspArgGluGluSerGluGlyTrpProAlaIleAspGlySerPheLeuAlaAlaValGlyAsnLeuIleValValThrAlaSerTyrArgValGlyValPheGlyPheLeuSerSerGlySerGlyGluValSerGlyAsnTrpGlyLeuLeuAspGlnValAlaAlaLeuThrTrpValGlnThrHisIleArgGlyPheGlyGlyAspProArgArgValSerLeuAlaAlaAspArgGlyGlyAlaAspValAlaSerIleHisLeuLeuThrAlaArgAlaThrAsnSerGlnLeuPheArgArgAlaValLeuMetGlyGlySerAlaLeuSerProAlaAlaValIleSerHisGluArgAlaGlnGlnGlnAlaIleAlaLeuAlaLysGluValSerCysProMetSerSerSerGlnGluValValSerCysLeuArgGlnLysProAlaAsnValLeuAsnAspAlaGlnThrLysLeuLeuAlaValSerGlyProPheHisTyrTrpGlyProValIleAspGlyHisPheLeuArgGluProProAlaArgAlaLeuLysArgSerLeuTrpValGluValAspLeuLeuIleGlySerSerGlnAspAspGlyLeuIleAsnArgAlaLysAlaValLysGlnPheGluGluSerArgGlyArgThrSerSerLysThrAlaPheTyrGlnAlaLeuGlnAsnSerLeuGlyGlyGluAspSerAspAlaArgValGluAlaAlaAlaThrTrpTyrTyrSerLeuGluHisSerThrAspAspTyrAlaSerPheSerArgAlaLeuGluAsnAlaThrArgAspTyrPheIleIleCysProIleIleAspMetAlaSerAlaTrpAlaLysArgAlaArgGlyAsnValPheMetTyrHisAlaProGluAsnTyrGlyHisGlySerLeuGluLeuLeuAlaAspValGlnPheAlaLeuGlyLeuProPheTyrProAlaTyrGluGlyGlnPheSerLeuGluGluLysSerLeuSerLeuLysIleMetGlnTyrPheSerHisPheIleArgSerGlyAsnProAsnTyrProTyrGluPheSerArgLysValProThrPheAlaThrProTrpProAspPheValProArgAlaGlyGlyGluAsnTyrLysGluPheSerGluLeuLeuProAsnArgGlnGlyLeuLysLysAlaAspCysSerPheTrpSerLysTyrIleSerSerLeuLysThrSerAlaAspGlyAlaLysGlyGlyGlnSerAlaGluSerGluGluGluGluLeuThrAlaGlySerGlyLeuArgGluAspLeuLeuSerLeuGlnGluProGlySerLysThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665941", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000220616.9:c.5386C>T" }, "RefSeq": { "hgvs": "NM_003235.5:c.5386C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000220616.4:p.Gln1796Ter" }, "RefSeq": { "hgvs": "NP_003226.4:p.Gln1796Ter" } } } } ], "type": "nucleotide" }