{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253644", "communityStandardTitle": [ "NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20929[alleleid]", "alleleId": 20929, "preferredName": "NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5890", "RCV": [ "RCV000006248", "RCV003555935" ], "variationId": 5890 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43578333C>T?assembly=hg19", "id": "chr6:g.43578333C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43610596C>T?assembly=hg38", "id": "chr6:g.43610596C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908564", "rs": 121908564 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43578333-C-T?dataset=gnomad_r2_1", "id": "6-43578333-C-T", "variant": "6:43578333 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43610596-C-T?dataset=gnomad_r4", "id": "6-43610596-C-T", "variant": "6:43610596 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43610596, "referenceAllele": "C", "start": 43610595 } ], "hgvs": [ "NC_000006.12:g.43610596C>T", "CM000668.2:g.43610596C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43578333, "referenceAllele": "C", "start": 43578332 } ], "hgvs": [ "NC_000006.11:g.43578333C>T", "CM000668.1:g.43578333C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43686311, "referenceAllele": "C", "start": 43686310 } ], "hgvs": [ "NC_000006.10:g.43686311C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 39456, "referenceAllele": "C", "start": 39455 } ], "hgvs": [ "NG_009252.1:g.39456C>T", "LRG_470:g.39456C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001522" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372236.9:c.1117C>T" ], "proteinEffect": { "hgvs": "ENSP00000361310.4:p.Gln373Ter", "hgvsWellDefined": "ENSP00000361310.4:p.Gln373_His713delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750964", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372236.9:c.1117C>T" }, "RefSeq": { "hgvs": "NM_006502.3:c.1117C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361310.4:p.Gln373Ter" }, "RefSeq": { "hgvs": "NP_006493.1:p.Gln373Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372226.1:c.1117C>T" ], "proteinEffect": { "hgvs": "ENSP00000361300.1:p.Gln373Ter", "hgvsWellDefined": "ENSP00000361300.1:p.Gln373_Glu414delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268985" }, { "coordinates": [ { "allele": "T", "end": 1412, "referenceAllele": "C", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "ENST00000372236.8:c.1117C>T" ], "proteinEffect": { "hgvs": "ENSP00000361310.4:p.Gln373Ter", "hgvsWellDefined": 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"NP_001278898.1:p.Gln249_His589delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024404" }, { "@id": "http://reg.genome.network/allele/PA2826815343", "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291970.1:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_001278899.1:p.Gln373Ter", "hgvsWellDefined": "NP_001278899.1:p.Gln373_Glu414delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024405" }, { "@id": "http://reg.genome.network/allele/PA253646", "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_006502.2:c.1117C>T", "LRG_470t1:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_006493.1:p.Gln373Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS031511" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_005249186.2:c.931C>T" ], "proteinEffect": { "hgvs": "XP_005249243.1:p.Gln311Ter", "hgvsWellDefined": "XP_005249243.1:p.Gln311_His651delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058747" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "C", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_011514698.1:c.745C>T" ], "proteinEffect": { "hgvs": "XP_011513000.1:p.Gln249Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081923" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_005249186.4:c.931C>T" ], "proteinEffect": { "hgvs": "XP_005249243.1:p.Gln311Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS533232" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "C", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_011514698.3:c.745C>T" ], "proteinEffect": { "hgvs": "XP_011513000.1:p.Gln249Ter", "hgvsWellDefined": "XP_011513000.1:p.Gln249_His589delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543434" }, { "coordinates": [ { "allele": "T", "end": 4164, "referenceAllele": "C", "start": 4163 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_024446466.1:c.865C>T" ], "proteinEffect": { "hgvs": "XP_024302234.1:p.Gln289Ter", "hgvsWellDefined": "XP_024302234.1:p.Gln289_His629delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580128" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "XM_024446467.1:c.661C>T" ], "proteinEffect": { "hgvs": "XP_024302235.1:p.Gln221Ter", "hgvsWellDefined": "XP_024302235.1:p.Gln221_His561delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580129" }, { "@id": "http://reg.genome.network/allele/PA2826815104", "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291969.2:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001278898.1:p.Gln249Ter", "hgvsWellDefined": "NP_001278898.1:p.Gln249_His589delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682925" }, { "@id": "http://reg.genome.network/allele/PA2826815343", "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_001291970.2:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_001278899.1:p.Gln373Ter", "hgvsWellDefined": "NP_001278899.1:p.Gln373_Glu414delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682926" }, { "@id": "http://reg.genome.network/allele/PA253646", "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN009181", "geneNCBI_id": 5429, "geneSymbol": "POLH", "hgvs": [ "NM_006502.3:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_006493.1:p.Gln373Ter", "hgvsWellDefined": "NP_006493.1:p.Gln373_His713delinsGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372236.9:c.1117C>T" }, "RefSeq": { "hgvs": "NM_006502.3:c.1117C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361310.4:p.Gln373Ter" }, "RefSeq": { "hgvs": "NP_006493.1:p.Gln373Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 966, "endIntronDirection": "+", "endIntronOffset": 81325, "referenceAllele": "C", "start": 966, "startIntronDirection": "+", "startIntronOffset": 81324 } ], "gene": "http://reg.genome.network/gene/GN020194", "geneNCBI_id": 9533, "geneSymbol": "POLR1C", "hgvs": [ "NM_001318876.2:c.945+81325C>T" ], "proteinEffect": { "hgvs": "NP_001305805.1:n.945+81325C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717620" } ], "type": "nucleotide" }