{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364280217", "communityStandardTitle": [ "NM_006502.3(POLH):c.499C>T (p.Arg167Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5024130", "active": true, "id": "COSM5024130" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2904780[alleleid]", "alleleId": 2904780, "preferredName": "NM_006502.3(POLH):c.499C>T (p.Arg167Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734868", "RCV": [ "RCV003555256", "RCV003991058" ], "variationId": 2734868 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43565441C>T?assembly=hg19", "id": "chr6:g.43565441C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43597704C>T?assembly=hg38", "id": "chr6:g.43597704C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1396889047", "rs": 1396889047 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43597704-C-T?dataset=gnomad_r3", "id": "6-43597704-C-T", "variant": "6:43597704 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43597704-C-T?dataset=gnomad_r4", "id": "6-43597704-C-T", "variant": "6:43597704 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43597704, "referenceAllele": "C", "start": 43597703 } ], "hgvs": [ "NC_000006.12:g.43597704C>T", "CM000668.2:g.43597704C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43565441, "referenceAllele": "C", "start": 43565440 } ], "hgvs": [ "NC_000006.11:g.43565441C>T", "CM000668.1:g.43565441C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43673419, "referenceAllele": "C", "start": 43673418 } ], "hgvs": [ "NC_000006.10:g.43673419C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 26564, "referenceAllele": "C", "start": 26563 } ], "hgvs": [ "NG_009252.1:g.26564C>T", "LRG_470:g.26564C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001522" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372236.9:c.499C>T" ], "proteinEffect": { "hgvs": "ENSP00000361310.4:p.Arg167Ter", "hgvsWellDefined": "ENSP00000361310.4:p.Arg167_His713delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750964", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372236.9:c.499C>T" }, "RefSeq": { "hgvs": "NM_006502.3:c.499C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361310.4:p.Arg167Ter" }, "RefSeq": { "hgvs": "NP_006493.1:p.Arg167Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372226.1:c.499C>T" ], "proteinEffect": { "hgvs": "ENSP00000361300.1:p.Arg167Ter", "hgvsWellDefined": "ENSP00000361300.1:p.Arg167_Glu414delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268985" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372236.8:c.499C>T" ], "proteinEffect": { "hgvs": "ENSP00000361310.4:p.Arg167Ter", "hgvsWellDefined": "ENSP00000361310.4:p.Arg167_His713delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268992" }, { "@id": "http://reg.genome.network/allele/PA2741852501", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291969.1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001278898.1:p.Arg43Ter", "hgvsWellDefined": "NP_001278898.1:p.Arg43_His589delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024404" }, { "@id": "http://reg.genome.network/allele/PA2826815270", "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291970.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001278899.1:p.Arg167Ter", "hgvsWellDefined": "NP_001278899.1:p.Arg167_Glu414delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024405" }, { "@id": "http://reg.genome.network/allele/PA2829667943", "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_006502.2:c.499C>T", "LRG_470t1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_006493.1:p.Arg167Ter", "hgvsWellDefined": "NP_006493.1:p.Arg167_His713delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031511" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_005249186.2:c.313C>T" ], "proteinEffect": { "hgvs": "XP_005249243.1:p.Arg105Ter", "hgvsWellDefined": "XP_005249243.1:p.Arg105_His651delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058747" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_011514698.1:c.127C>T" ], "proteinEffect": { "hgvs": "XP_011513000.1:p.Arg43Ter", "hgvsWellDefined": "XP_011513000.1:p.Arg43_His589delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081923" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_005249186.4:c.313C>T" ], "proteinEffect": { "hgvs": "XP_005249243.1:p.Arg105Ter", "hgvsWellDefined": "XP_005249243.1:p.Arg105_His651delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533232" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_011514698.3:c.127C>T" ], "proteinEffect": { "hgvs": "XP_011513000.1:p.Arg43Ter", "hgvsWellDefined": "XP_011513000.1:p.Arg43_His589delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543434" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "C", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_024446466.1:c.247C>T" ], "proteinEffect": { "hgvs": "XP_024302234.1:p.Arg83Ter", "hgvsWellDefined": "XP_024302234.1:p.Arg83_His629delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580128" }, { "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_024446467.1:c.43C>T" ], "proteinEffect": { "hgvs": "XP_024302235.1:p.Arg15Ter", "hgvsWellDefined": "XP_024302235.1:p.Arg15_His561delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580129" }, { "@id": "http://reg.genome.network/allele/PA2741852501", "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291969.2:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001278898.1:p.Arg43Ter", "hgvsWellDefined": "NP_001278898.1:p.Arg43_His589delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682925" }, { "@id": "http://reg.genome.network/allele/PA2826815270", "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291970.2:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001278899.1:p.Arg167Ter", "hgvsWellDefined": "NP_001278899.1:p.Arg167_Glu414delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682926" }, { "@id": "http://reg.genome.network/allele/PA2829667943", "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_006502.3:c.499C>T" ], "proteinEffect": { "hgvs": "NP_006493.1:p.Arg167Ter", "hgvsWellDefined": "NP_006493.1:p.Arg167_His713delinsLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372236.9:c.499C>T" }, "RefSeq": { "hgvs": "NM_006502.3:c.499C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361310.4:p.Arg167Ter" }, "RefSeq": { "hgvs": "NP_006493.1:p.Arg167Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 966, "endIntronDirection": "+", "endIntronOffset": 68433, "referenceAllele": "C", "start": 966, "startIntronDirection": "+", "startIntronOffset": 68432 } ], "gene": "http://reg.genome.network/gene/GN020194", "geneNCBI_id": 9533, "geneSymbol": "POLR1C", "hgvs": [ "NM_001318876.2:c.945+68433C>T" ], "proteinEffect": { "hgvs": "NP_001305805.1:n.945+68433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717620" } ], "type": "nucleotide" }