{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1858342",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1006175",
        "active": true,
        "id": "COSM1006175"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=284240[alleleid]",
        "alleleId": 284240,
        "preferredName": "NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/331082",
        "RCV": [
          "RCV000263793",
          "RCV000908712",
          "RCV002255368"
        ],
        "variationId": 331082
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128044466-G-A",
        "id": "2-128044466-G-A",
        "variant": "2:128044466 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128044466G>A?assembly=hg19",
        "id": "chr2:g.128044466G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127286890G>A?assembly=hg38",
        "id": "chr2:g.127286890G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371396764",
        "rs": 371396764
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128044466-G-A?dataset=gnomad_r2_1",
        "id": "2-128044466-G-A",
        "variant": "2:128044466 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127286890-G-A?dataset=gnomad_r3",
        "id": "2-127286890-G-A",
        "variant": "2:127286890 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127286890-G-A?dataset=gnomad_r4",
        "id": "2-127286890-G-A",
        "variant": "2:127286890 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 127286890,
          "referenceAllele": "G",
          "start": 127286889
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127286890G>A",
        "CM000664.2:g.127286890G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 128044466,
          "referenceAllele": "G",
          "start": 128044465
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128044466G>A",
        "CM000664.1:g.128044466G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 127760936,
          "referenceAllele": "G",
          "start": 127760935
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127760936G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12287,
          "referenceAllele": "C",
          "start": 12286
        }
      ],
      "hgvs": [
        "NG_007454.1:g.12287C>T",
        "LRG_462:g.12287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.1155C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Asp385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1155C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1155C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Asp385="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Asp385="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*644C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*644C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*1367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*1367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.1155C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:p.Asp385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:p.Asp337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.1890C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*622C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.1155C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Asp385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "C",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.395+2447C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.1155C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Asp385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*1136C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*1198C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000494464.5:n.1226C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045414",
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.1155C>T",
        "LRG_462t1:c.1155C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Asp385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882437",
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.963C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Asp321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.963C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Asp321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.1173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Asp391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.717C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Asp239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.1173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Asp391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.699C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Asp233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045414",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1155C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Asp385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1155C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1155C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Asp385="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Asp385="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882437",
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.963C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Asp321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.963C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Asp321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}