{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406983918",
  "communityStandardTitle": [
    "NM_002691.4(POLD1):c.2251-1G>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4080378",
        "active": true,
        "id": "COSM4080378"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4080379",
        "active": true,
        "id": "COSM4080379"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1332607[alleleid]",
        "alleleId": 1332607,
        "preferredName": "NM_002691.4(POLD1):c.2251-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341401",
        "RCV": [
          "RCV001829315"
        ],
        "variationId": 1341401
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50916998G>T?assembly=hg19",
        "id": "chr19:g.50916998G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50413741G>T?assembly=hg38",
        "id": "chr19:g.50413741G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501808",
        "rs": 1060501808
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50413741-G-T?dataset=gnomad_r4",
        "id": "19-50413741-G-T",
        "variant": "19:50413741 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50413741,
          "referenceAllele": "G",
          "start": 50413740
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50413741G>T",
        "CM000681.2:g.50413741G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50916998,
          "referenceAllele": "G",
          "start": 50916997
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50916998G>T",
        "CM000681.1:g.50916998G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55608810,
          "referenceAllele": "G",
          "start": 55608809
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55608810G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34419,
          "referenceAllele": "G",
          "start": 34418
        }
      ],
      "hgvs": [
        "NG_033800.1:g.34419G>T",
        "LRG_785:g.34419G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2629,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2629,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000593887.2:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472607.2:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2441,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600746.2:n.2442-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2256,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2256,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.2:c.2257-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495618.2:n.2257-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2314,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000687454.1:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510052.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2295,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.7:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.2251-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.2251-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:n.2251-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:n.2251-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2373,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.6:c.2329-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:n.2329-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2322,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.7:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2426,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000601098.6:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472600.2:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2239,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2239,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.6:c.2179-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.2:n.2179-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2500,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2500,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000643407.1:c.*38-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496078.1:n.*38-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1127,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.1:c.1128-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2303,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2303,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.6:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 19,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000593407.5:c.20-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2328,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2328,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.5:c.2329-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:n.2329-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2294,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2294,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.5:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2438,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2438,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600859.5:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470726.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2397,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2397,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.4:c.2329-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.1:n.2329-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2322,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001256849.1:c.2251-1G>T",
        "LRG_785t1:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243778.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2328,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2328,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001308632.1:c.2329-1G>T",
        "LRG_785t2:c.2329-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295561.1:n.2329-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2319,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.3:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2319,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.1:n.2320-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2280,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.3:c.2179-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:n.2179-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2377,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2377,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527038.1:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525340.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2264,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2264,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527039.1:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525341.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2279,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.4:c.2179-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:n.2179-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2396,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026881.1:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882370.1:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2241,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026882.2:c.2179-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882371.1:n.2179-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2295,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.4:c.2251-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:n.2251-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.2251-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.2251-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:n.2251-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:n.2251-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2295,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.2:n.2296-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702488"
    }
  ],
  "type": "nucleotide"
}