{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA248735",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137867[alleleid]",
        "alleleId": 137867,
        "preferredName": "NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134128",
        "RCV": [
          "RCV000120800",
          "RCV000765502",
          "RCV001129472",
          "RCV001294157",
          "RCV001362006",
          "RCV002257425",
          "RCV004019680"
        ],
        "variationId": 134128
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128046416-G-A",
        "id": "2-128046416-G-A",
        "variant": "2:128046416 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128046416G>A?assembly=hg19",
        "id": "chr2:g.128046416G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127288840G>A?assembly=hg38",
        "id": "chr2:g.127288840G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145201970",
        "rs": 145201970
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128046416-G-A?dataset=gnomad_r2_1",
        "id": "2-128046416-G-A",
        "variant": "2:128046416 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127288840-G-A?dataset=gnomad_r3",
        "id": "2-127288840-G-A",
        "variant": "2:127288840 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127288840-G-A?dataset=gnomad_r4",
        "id": "2-127288840-G-A",
        "variant": "2:127288840 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 127288840,
          "referenceAllele": "G",
          "start": 127288839
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127288840G>A",
        "CM000664.2:g.127288840G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 128046416,
          "referenceAllele": "G",
          "start": 128046415
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128046416G>A",
        "CM000664.1:g.128046416G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 127762886,
          "referenceAllele": "G",
          "start": 127762885
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127762886G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10337,
          "referenceAllele": "C",
          "start": 10336
        }
      ],
      "hgvs": [
        "NG_007454.1:g.10337C>T",
        "LRG_462:g.10337C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Arg283Cys",
        "hgvsWellDefined": "ENSP00000285398.2:p.Arg283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.847C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.847C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Arg283Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Arg283Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000643982.1:n.444C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*336C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*1059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*1059C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:p.Arg283Cys",
        "hgvsWellDefined": "ENSP00000494889.1:p.Arg283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:p.Arg235Cys",
        "hgvsWellDefined": "ENSP00000494545.1:p.Arg235Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.1582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Arg283Cys",
        "hgvsWellDefined": "ENSP00000495619.1:p.Arg283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 497,
          "referenceAllele": "C",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.395+497C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Arg283Cys",
        "hgvsWellDefined": "ENSP00000285398.2:p.Arg283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*828C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*828C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*890C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*890C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000456257.1:c.396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000494464.5:n.918C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA248737",
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.847C>T",
        "LRG_462t1:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Arg283Cys",
        "hgvsWellDefined": "NP_000113.1:p.Arg283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882387",
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Arg219Cys",
        "hgvsWellDefined": "NP_001290345.1:p.Arg219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882712",
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Arg219Cys",
        "hgvsWellDefined": "NP_001290347.1:p.Arg219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Arg289Cys",
        "hgvsWellDefined": "XP_011509096.1:p.Arg289Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.409C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Arg137Cys",
        "hgvsWellDefined": "XP_011509097.1:p.Arg137Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Arg289Cys",
        "hgvsWellDefined": "XP_011509096.1:p.Arg289Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Arg131Cys",
        "hgvsWellDefined": "XP_016859072.1:p.Arg131Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA248737",
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Arg283Cys",
        "hgvsWellDefined": "NP_000113.1:p.Arg283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.847C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.847C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Arg283Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Arg283Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882387",
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Arg219Cys",
        "hgvsWellDefined": "NP_001290345.1:p.Arg219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882712",
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Arg219Cys",
        "hgvsWellDefined": "NP_001290347.1:p.Arg219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}