{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1858353",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=881020[alleleid]",
        "alleleId": 881020,
        "preferredName": "NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/892811",
        "RCV": [
          "RCV001129470"
        ],
        "variationId": 892811
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128044511-A-G",
        "id": "2-128044511-A-G",
        "variant": "2:128044511 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128044511A>G?assembly=hg19",
        "id": "chr2:g.128044511A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127286935A>G?assembly=hg38",
        "id": "chr2:g.127286935A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774063464",
        "rs": 774063464
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128044511-A-G?dataset=gnomad_r2_1",
        "id": "2-128044511-A-G",
        "variant": "2:128044511 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127286935-A-G?dataset=gnomad_r3",
        "id": "2-127286935-A-G",
        "variant": "2:127286935 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127286935-A-G?dataset=gnomad_r4",
        "id": "2-127286935-A-G",
        "variant": "2:127286935 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127286935,
          "referenceAllele": "A",
          "start": 127286934
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127286935A>G",
        "CM000664.2:g.127286935A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 128044511,
          "referenceAllele": "A",
          "start": 128044510
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128044511A>G",
        "CM000664.1:g.128044511A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127760981,
          "referenceAllele": "A",
          "start": 127760980
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127760981A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12242,
          "referenceAllele": "T",
          "start": 12241
        }
      ],
      "hgvs": [
        "NG_007454.1:g.12242T>C",
        "LRG_462:g.12242T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.1110T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ser370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1110T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1110T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ser370="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ser370="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "T",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*599T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*599T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "T",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*1322T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*1322T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.1110T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:p.Ser370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 966,
          "referenceAllele": "T",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.966T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:p.Ser322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1845,
          "referenceAllele": "T",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.1845T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "T",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*577T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*577T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.1110T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Ser370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 2402,
          "referenceAllele": "T",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.395+2402T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1205,
          "referenceAllele": "T",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.1110T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ser370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1371,
          "referenceAllele": "T",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*1091T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*1091T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "T",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*1153T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*1153T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1181,
          "referenceAllele": "T",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000494464.5:n.1181T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045407",
      "coordinates": [
        {
          "allele": "C",
          "end": 1205,
          "referenceAllele": "T",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.1110T>C",
        "LRG_462t1:c.1110T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ser370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882428",
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.918T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ser306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882752",
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "T",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.918T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ser306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.1128T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ser376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "T",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.672T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Ser224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1213,
          "referenceAllele": "T",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.1128T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ser376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.654T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Ser218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045407",
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1110T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ser370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1110T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1110T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ser370="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ser370="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882428",
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "T",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.918T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ser306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882752",
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.918T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ser306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}