{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4732570", "communityStandardTitle": [ "NM_002690.3(POLB):c.725C>G (p.Pro242Arg)" ], "externalRecords": { "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-42226805-C-G", "id": "8-42226805-C-G", "variant": "8:42226805 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.42226805C>G?assembly=hg19", "id": "chr8:g.42226805C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.42369287C>G?assembly=hg38", "id": "chr8:g.42369287C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3136797", "rs": 3136797 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-42226805-C-G?dataset=gnomad_r2_1", "id": "8-42226805-C-G", "variant": "8:42226805 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-42369287-C-G?dataset=gnomad_r3", "id": "8-42369287-C-G", "variant": "8:42369287 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-42369287-C-G?dataset=gnomad_r4", "id": "8-42369287-C-G", "variant": "8:42369287 C / G" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 42369287, "referenceAllele": "C", "start": 42369286 } ], "hgvs": [ "NC_000008.11:g.42369287C>G", "CM000670.2:g.42369287C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 42226805, "referenceAllele": "C", "start": 42226804 } ], "hgvs": [ "NC_000008.10:g.42226805C>G", "CM000670.1:g.42226805C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 42345962, "referenceAllele": "C", "start": 42345961 } ], "hgvs": [ "NC_000008.9:g.42345962C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000265421.9:c.725C>G" ], "proteinEffect": { "hgvs": "ENSP00000265421.4:p.Pro242Arg", "hgvsWellDefined": "ENSP00000265421.4:p.Pro242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS742835", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265421.9:c.725C>G" }, "RefSeq": { "hgvs": "NM_002690.3:c.725C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265421.4:p.Pro242Arg" }, "RefSeq": { "hgvs": "NP_002681.1:p.Pro242Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000265421.8:c.725C>G" ], "proteinEffect": { "hgvs": "ENSP00000265421.4:p.Pro242Arg", "hgvsWellDefined": "ENSP00000265421.4:p.Pro242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS251743" }, { "coordinates": [ { "allele": "G", "end": 155, "endIntronDirection": "-", "endIntronOffset": 2275, "referenceAllele": "C", "start": 155, "startIntronDirection": "-", "startIntronOffset": 2276 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000517393.1:c.156-2276C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS345081" }, { "coordinates": [ { "allele": "G", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000518579.5:c.298C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS346004" }, { "coordinates": [ { "allele": "G", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000518925.5:c.830C>G" ], "proteinEffect": { "hgvs": "ENSP00000430784.1:p.Pro277Arg", "hgvsWellDefined": "ENSP00000430784.1:p.Pro277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS346278" }, { "coordinates": [ { "allele": "G", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000519771.5:c.*529C>G" ], "proteinEffect": { "hgvs": "ENSP00000427799.1:n.*529C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS346953" }, { "coordinates": [ { "allele": "G", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000521290.5:c.429C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS348138" }, { "coordinates": [ { "allele": "G", "end": 352, "referenceAllele": "C", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000521492.1:c.-119C>G" ], "proteinEffect": { "hgvs": "ENSP00000430831.1:n.-119C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS348299" }, { "coordinates": [ { "allele": "G", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000522610.5:c.*250C>G" ], "proteinEffect": { "hgvs": "ENSP00000429436.1:n.*250C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS349194" }, { "coordinates": [ { "allele": "G", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "ENST00000524208.5:c.465C>G" ], "proteinEffect": { "hgvs": "ENSP00000428578.1:n.465C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS350415" }, { "@id": "http://reg.genome.network/allele/PA3074688927", "coordinates": [ { "allele": "G", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "NM_002690.2:c.725C>G" ], "proteinEffect": { "hgvs": "NP_002681.1:p.Pro242Arg", "hgvsWellDefined": "NP_002681.1:p.Pro242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS027979" }, { "coordinates": [ { "allele": "G", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273535.2:c.830C>G" ], "proteinEffect": { "hgvs": "XP_005273592.1:p.Pro277Arg", "hgvsWellDefined": "XP_005273592.1:p.Pro277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067629" }, { "coordinates": [ { "allele": "G", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273536.2:c.743C>G" ], "proteinEffect": { "hgvs": "XP_005273593.1:p.Pro248Arg", "hgvsWellDefined": "XP_005273593.1:p.Pro248Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067630" }, { "coordinates": [ { "allele": "G", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273537.2:c.638C>G" ], "proteinEffect": { "hgvs": "XP_005273594.1:p.Pro213Arg", "hgvsWellDefined": "XP_005273594.1:p.Pro213Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067631" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273538.2:c.383C>G" ], "proteinEffect": { "hgvs": "XP_005273595.1:p.Pro128Arg", "hgvsWellDefined": "XP_005273595.1:p.Pro128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067632" }, { "coordinates": [ { "allele": "G", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273539.2:c.263C>G" ], "proteinEffect": { "hgvs": "XP_005273596.1:p.Pro88Arg", "hgvsWellDefined": "XP_005273596.1:p.Pro88Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067633" }, { "coordinates": [ { "allele": "G", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273540.3:c.263C>G" ], "proteinEffect": { "hgvs": "XP_005273597.1:p.Pro88Arg", "hgvsWellDefined": "XP_005273597.1:p.Pro88Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS067634" }, { "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_006716353.2:c.263C>G" ], "proteinEffect": { "hgvs": "XP_006716416.1:p.Pro88Arg", "hgvsWellDefined": "XP_006716416.1:p.Pro88Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS071626" }, { "coordinates": [ { "allele": "G", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273535.4:c.830C>G" ], "proteinEffect": { "hgvs": "XP_005273592.1:p.Pro277Arg", "hgvsWellDefined": "XP_005273592.1:p.Pro277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS537467" }, { "coordinates": [ { "allele": "G", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273536.4:c.743C>G" ], "proteinEffect": { "hgvs": "XP_005273593.1:p.Pro248Arg", "hgvsWellDefined": "XP_005273593.1:p.Pro248Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS537468" }, { "coordinates": [ { "allele": "G", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273537.4:c.638C>G" ], "proteinEffect": { "hgvs": "XP_005273594.1:p.Pro213Arg", "hgvsWellDefined": "XP_005273594.1:p.Pro213Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS537469" }, { "coordinates": [ { "allele": "G", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_005273540.4:c.263C>G" ], "proteinEffect": { "hgvs": "XP_005273597.1:p.Pro88Arg", "hgvsWellDefined": "XP_005273597.1:p.Pro88Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS537470" }, { "coordinates": [ { "allele": "G", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_017013583.1:c.383C>G" ], "proteinEffect": { "hgvs": "XP_016869072.1:p.Pro128Arg", "hgvsWellDefined": "XP_016869072.1:p.Pro128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS566833" }, { "coordinates": [ { "allele": "G", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XM_017013584.1:c.263C>G" ], "proteinEffect": { "hgvs": "XP_016869073.1:p.Pro88Arg", "hgvsWellDefined": "XP_016869073.1:p.Pro88Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS566834" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "XR_001745544.2:n.966C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594049" }, { "@id": "http://reg.genome.network/allele/PA3074688927", "coordinates": [ { "allele": "G", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN009174", "geneNCBI_id": 5423, "geneSymbol": "POLB", "hgvs": [ "NM_002690.3:c.725C>G" ], "proteinEffect": { "hgvs": "NP_002681.1:p.Pro242Arg", "hgvsWellDefined": "NP_002681.1:p.Pro242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS665659", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265421.9:c.725C>G" }, "RefSeq": { "hgvs": "NM_002690.3:c.725C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265421.4:p.Pro242Arg" }, "RefSeq": { "hgvs": "NP_002681.1:p.Pro242Arg" } } } } ], "type": "nucleotide" }