{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3826982", "communityStandardTitle": [ "NM_006502.3(POLH):c.490G>T (p.Glu164Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227299[alleleid]", "alleleId": 227299, "preferredName": "NM_006502.3(POLH):c.490G>T (p.Glu164Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225444", "RCV": [ "RCV000251879", "RCV001195542", "RCV003556274" ], "variationId": 225444 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-43555226-G-T", "id": "6-43555226-G-T", "variant": "6:43555226 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43555226G>T?assembly=hg19", "id": "chr6:g.43555226G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43587489G>T?assembly=hg38", "id": "chr6:g.43587489G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767433001", "rs": 767433001 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43555226-G-T?dataset=gnomad_r2_1", "id": "6-43555226-G-T", "variant": "6:43555226 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43587489-G-T?dataset=gnomad_r3", "id": "6-43587489-G-T", "variant": "6:43587489 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43587489-G-T?dataset=gnomad_r4", "id": "6-43587489-G-T", "variant": "6:43587489 G / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43587489, "referenceAllele": "G", "start": 43587488 } ], "hgvs": [ "NC_000006.12:g.43587489G>T", "CM000668.2:g.43587489G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43555226, "referenceAllele": "G", "start": 43555225 } ], "hgvs": [ "NC_000006.11:g.43555226G>T", "CM000668.1:g.43555226G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43663204, "referenceAllele": "G", "start": 43663203 } ], "hgvs": [ "NC_000006.10:g.43663204G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 16349, "referenceAllele": "G", "start": 16348 } ], "hgvs": [ "NG_009252.1:g.16349G>T", "LRG_470:g.16349G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001522" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372236.9:c.490G>T" ], "proteinEffect": { "hgvs": "ENSP00000361310.4:p.Glu164Ter", "hgvsWellDefined": "ENSP00000361310.4:p.Glu164_His713delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750964", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372236.9:c.490G>T" }, "RefSeq": { "hgvs": "NM_006502.3:c.490G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361310.4:p.Glu164Ter" }, "RefSeq": { "hgvs": "NP_006493.1:p.Glu164Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "G", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372226.1:c.490G>T" ], "proteinEffect": { "hgvs": "ENSP00000361300.1:p.Glu164Ter", "hgvsWellDefined": "ENSP00000361300.1:p.Glu164_Glu414delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268985" }, { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372236.8:c.490G>T" ], "proteinEffect": { "hgvs": "ENSP00000361310.4:p.Glu164Ter", "hgvsWellDefined": "ENSP00000361310.4:p.Glu164_His713delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268992" }, { "coordinates": [ { "allele": "T", "end": 435, "endIntronDirection": "+", "endIntronOffset": 4348, "referenceAllele": "G", "start": 435, "startIntronDirection": "+", "startIntronOffset": 4347 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291969.1:c.118+4348G>T" ], "proteinEffect": { "hgvs": "NP_001278898.1:n.118+4348G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024404" }, { "@id": "http://reg.genome.network/allele/PA2826815268", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291970.1:c.490G>T" ], "proteinEffect": { "hgvs": "NP_001278899.1:p.Glu164Ter", "hgvsWellDefined": "NP_001278899.1:p.Glu164_Glu414delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024405" }, { "@id": "http://reg.genome.network/allele/PA645424804", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_006502.2:c.490G>T", "LRG_470t1:c.490G>T" ], "proteinEffect": { "hgvs": "NP_006493.1:p.Glu164Ter", "hgvsWellDefined": "NP_006493.1:p.Glu164_His713delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031511" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_005249186.2:c.304G>T" ], "proteinEffect": { "hgvs": "XP_005249243.1:p.Glu102Ter", "hgvsWellDefined": "XP_005249243.1:p.Glu102_His651delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058747" }, { "coordinates": [ { "allele": "T", "end": 561, "endIntronDirection": "+", "endIntronOffset": 4348, "referenceAllele": "G", "start": 561, "startIntronDirection": "+", "startIntronOffset": 4347 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_011514698.1:c.118+4348G>T" ], "proteinEffect": { "hgvs": "XP_011513000.1:n.118+4348G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS081923" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_005249186.4:c.304G>T" ], "proteinEffect": { "hgvs": "XP_005249243.1:p.Glu102Ter", "hgvsWellDefined": "XP_005249243.1:p.Glu102_His651delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533232" }, { "coordinates": [ { "allele": "T", "end": 568, "endIntronDirection": "+", "endIntronOffset": 4348, "referenceAllele": "G", "start": 568, "startIntronDirection": "+", "startIntronOffset": 4347 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_011514698.3:c.118+4348G>T" ], "proteinEffect": { "hgvs": "XP_011513000.1:n.118+4348G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS543434" }, { "coordinates": [ { "allele": "T", "end": 3537, "referenceAllele": "G", "start": 3536 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_024446466.1:c.238G>T" ], "proteinEffect": { "hgvs": "XP_024302234.1:p.Glu80Ter", "hgvsWellDefined": "XP_024302234.1:p.Glu80_His629delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580128" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "G", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_024446467.1:c.-130G>T" ], "proteinEffect": { "hgvs": "XP_024302235.1:n.-130G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580129" }, { "coordinates": [ { "allele": "T", "end": 391, "endIntronDirection": "+", "endIntronOffset": 4348, "referenceAllele": "G", "start": 391, "startIntronDirection": "+", "startIntronOffset": 4347 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291969.2:c.118+4348G>T" ], "proteinEffect": { "hgvs": "NP_001278898.1:n.118+4348G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS682925" }, { "@id": "http://reg.genome.network/allele/PA2826815268", "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291970.2:c.490G>T" ], "proteinEffect": { "hgvs": "NP_001278899.1:p.Glu164Ter", "hgvsWellDefined": "NP_001278899.1:p.Glu164_Glu414delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682926" }, { "@id": "http://reg.genome.network/allele/PA645424804", "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_006502.3:c.490G>T" ], "proteinEffect": { "hgvs": "NP_006493.1:p.Glu164Ter", "hgvsWellDefined": "NP_006493.1:p.Glu164_His713delinsGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372236.9:c.490G>T" }, "RefSeq": { "hgvs": "NM_006502.3:c.490G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361310.4:p.Glu164Ter" }, "RefSeq": { "hgvs": "NP_006493.1:p.Glu164Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 966, "endIntronDirection": "+", "endIntronOffset": 58218, "referenceAllele": "G", "start": 966, "startIntronDirection": "+", "startIntronOffset": 58217 } ], "gene": "http://reg.genome.network/gene/GN020194", "geneNCBI_id": 9533, "geneSymbol": "POLR1C", "hgvs": [ "NM_001318876.2:c.945+58218G>T" ], "proteinEffect": { "hgvs": "NP_001305805.1:n.945+58218G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717620" } ], "type": "nucleotide" }