{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA428845420",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=881019[alleleid]",
        "alleleId": 881019,
        "preferredName": "NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/892810",
        "RCV": [
          "RCV001129469"
        ],
        "variationId": 892810
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128044469A>G?assembly=hg19",
        "id": "chr2:g.128044469A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127286893A>G?assembly=hg38",
        "id": "chr2:g.127286893A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1194673433",
        "rs": 1194673433
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128044469-A-G?dataset=gnomad_r2_1",
        "id": "2-128044469-A-G",
        "variant": "2:128044469 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127286893-A-G?dataset=gnomad_r4",
        "id": "2-127286893-A-G",
        "variant": "2:127286893 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127286893,
          "referenceAllele": "A",
          "start": 127286892
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127286893A>G",
        "CM000664.2:g.127286893A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 128044469,
          "referenceAllele": "A",
          "start": 128044468
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128044469A>G",
        "CM000664.1:g.128044469A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127760939,
          "referenceAllele": "A",
          "start": 127760938
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127760939A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12284,
          "referenceAllele": "T",
          "start": 12283
        }
      ],
      "hgvs": [
        "NG_007454.1:g.12284T>C",
        "LRG_462:g.12284T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.1152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ile384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1152T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1152T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ile384="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ile384="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "T",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*641T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*641T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1908,
          "referenceAllele": "T",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*1364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*1364T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.1152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:p.Ile384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.1008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:p.Ile336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.1887T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*619T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*619T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.1152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Ile384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 2444,
          "referenceAllele": "T",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.395+2444T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "T",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.1152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ile384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1413,
          "referenceAllele": "T",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*1133T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*1133T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*1195T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*1195T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1223,
          "referenceAllele": "T",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000494464.5:n.1223T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045413",
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "T",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.1152T>C",
        "LRG_462t1:c.1152T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ile384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882436",
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "T",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ile320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882760",
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ile320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.1170T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ile390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "T",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.714T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Ile238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1255,
          "referenceAllele": "T",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.1170T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ile390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Ile232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045413",
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1152T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ile384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1152T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1152T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ile384="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ile384="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882436",
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "referenceAllele": "T",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ile320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882760",
      "coordinates": [
        {
          "allele": "C",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ile320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}