{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1858160",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.1828-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1981159[alleleid]",
        "alleleId": 1981159,
        "preferredName": "NM_000122.2(ERCC3):c.1828-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1928310",
        "RCV": [
          "RCV002622145"
        ],
        "variationId": 1928310
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128029030-C-G",
        "id": "2-128029030-C-G",
        "variant": "2:128029030 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128029030C>G?assembly=hg19",
        "id": "chr2:g.128029030C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127271454C>G?assembly=hg38",
        "id": "chr2:g.127271454C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755760603",
        "rs": 755760603
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128029030-C-G?dataset=gnomad_r2_1",
        "id": "2-128029030-C-G",
        "variant": "2:128029030 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127271454-C-G?dataset=gnomad_r3",
        "id": "2-127271454-C-G",
        "variant": "2:127271454 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127271454-C-G?dataset=gnomad_r4",
        "id": "2-127271454-C-G",
        "variant": "2:127271454 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127271454,
          "referenceAllele": "C",
          "start": 127271453
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127271454C>G",
        "CM000664.2:g.127271454C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 128029030,
          "referenceAllele": "C",
          "start": 128029029
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128029030C>G",
        "CM000664.1:g.128029030C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127745500,
          "referenceAllele": "C",
          "start": 127745499
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127745500C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27723,
          "referenceAllele": "G",
          "start": 27722
        }
      ],
      "hgvs": [
        "NG_007454.1:g.27723G>C",
        "LRG_462:g.27723G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1890,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1890,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.1828-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:n.1828-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1828-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1828-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:n.1828-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:n.1828-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 186,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 186,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000642972.1:n.187-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1702,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*1317-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*1317-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2583,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2583,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*2040-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*2040-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2009,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.*600-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:n.*600-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645504.1:c.484-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1498,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.1499-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:n.1499-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2562,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2562,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.2563-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1841,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1841,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*1295-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*1295-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1965,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1965,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.1903-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:n.1903-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 13851,
          "referenceAllele": "G",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 13852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.396-13852G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1922,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.1828-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:n.1828-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2088,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2088,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*1809-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*1809-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2099,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*1871-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*1871-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1922,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.1828-1G>C",
        "LRG_462t1:c.1828-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:n.1828-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2037,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2037,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.1636-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:n.1636-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2099,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.1636-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:n.1636-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1901,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1901,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.1846-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:n.1846-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1775,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.1390-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:n.1390-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1930,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.1846-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:n.1846-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1757,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.1372-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:n.1372-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1890,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1890,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1828-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:n.1828-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1828-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1828-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:n.1828-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:n.1828-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2087,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2087,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.1636-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:n.1636-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2149,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2149,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.1636-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:n.1636-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}