{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9595956",
  "communityStandardTitle": [
    "NM_002691.4(POLD1):c.931C>T (p.Arg311Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1481365",
        "active": true,
        "id": "COSM1481365"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1481366",
        "active": true,
        "id": "COSM1481366"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403433[alleleid]",
        "alleleId": 403433,
        "preferredName": "NM_002691.4(POLD1):c.931C>T (p.Arg311Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/408113",
        "RCV": [
          "RCV000476261",
          "RCV000484263",
          "RCV000573629"
        ],
        "variationId": 408113
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-50905959-C-T",
        "id": "19-50905959-C-T",
        "variant": "19:50905959 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50905959C>T?assembly=hg19",
        "id": "chr19:g.50905959C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50402702C>T?assembly=hg38",
        "id": "chr19:g.50402702C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201010746",
        "rs": 201010746
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50905959-C-T?dataset=gnomad_r2_1",
        "id": "19-50905959-C-T",
        "variant": "19:50905959 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50402702-C-T?dataset=gnomad_r3",
        "id": "19-50402702-C-T",
        "variant": "19:50402702 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50402702-C-T?dataset=gnomad_r4",
        "id": "19-50402702-C-T",
        "variant": "19:50402702 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50402702,
          "referenceAllele": "C",
          "start": 50402701
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50402702C>T",
        "CM000681.2:g.50402702C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50905959,
          "referenceAllele": "C",
          "start": 50905958
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50905959C>T",
        "CM000681.1:g.50905959C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55597771,
          "referenceAllele": "C",
          "start": 55597770
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55597771C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23380,
          "referenceAllele": "C",
          "start": 23379
        }
      ],
      "hgvs": [
        "NG_033800.1:g.23380C>T",
        "LRG_785:g.23380C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000593887.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472607.2:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000472607.2:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600746.2:n.1122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495618.2:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000495618.2:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000687454.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510052.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000510052.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.7:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000406046.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.931C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.931C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:p.Arg311Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:p.Arg311Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.6:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000472445.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.7:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000473052.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000601098.6:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472600.2:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000472600.2:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.6:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.2:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000481858.2:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000643407.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496078.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000496078.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.6:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000406046.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.5:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000472445.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.5:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000473052.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600859.5:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470726.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000470726.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.4:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.1:p.Arg311Cys",
        "hgvsWellDefined": "ENSP00000481858.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826407731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001256849.1:c.931C>T",
        "LRG_785t1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243778.1:p.Arg311Cys",
        "hgvsWellDefined": "NP_001243778.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826937323",
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001308632.1:c.931C>T",
        "LRG_785t2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295561.1:p.Arg311Cys",
        "hgvsWellDefined": "NP_001295561.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447142",
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.3:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:p.Arg311Cys",
        "hgvsWellDefined": "NP_002682.2:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.1:n.1000C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.3:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:p.Arg311Cys",
        "hgvsWellDefined": "XP_005259065.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527038.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525340.1:p.Arg311Cys",
        "hgvsWellDefined": "XP_011525340.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527039.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525341.1:p.Arg311Cys",
        "hgvsWellDefined": "XP_011525341.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XR_935835.1:n.1033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.4:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:p.Arg311Cys",
        "hgvsWellDefined": "XP_005259065.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1077,
          "referenceAllele": "C",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026881.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882370.1:p.Arg311Cys",
        "hgvsWellDefined": "XP_016882370.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026882.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882371.1:p.Arg311Cys",
        "hgvsWellDefined": "XP_016882371.1:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XR_935835.2:n.1032C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447142",
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.4:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:p.Arg311Cys",
        "hgvsWellDefined": "NP_002682.2:p.Arg311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.931C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.931C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:p.Arg311Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:p.Arg311Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.2:n.976C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702488"
    }
  ],
  "type": "nucleotide"
}