{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA159002",
  "communityStandardTitle": [
    "NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5619887",
        "active": true,
        "id": "COSM5619887"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137914[alleleid]",
        "alleleId": 137914,
        "preferredName": "NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134175",
        "RCV": [
          "RCV000120848",
          "RCV000312757",
          "RCV000980003",
          "RCV002255297",
          "RCV003153390"
        ],
        "variationId": 134175
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-103527687-T-G",
        "id": "13-103527687-T-G",
        "variant": "13:103527687 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103527687T>G?assembly=hg19",
        "id": "chr13:g.103527687T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102875337T>G?assembly=hg38",
        "id": "chr13:g.102875337T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368550097",
        "rs": 368550097
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103527687-T-G?dataset=gnomad_r2_1",
        "id": "13-103527687-T-G",
        "variant": "13:103527687 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102875337-T-G?dataset=gnomad_r3",
        "id": "13-102875337-T-G",
        "variant": "13:102875337 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102875337-T-G?dataset=gnomad_r4",
        "id": "13-102875337-T-G",
        "variant": "13:102875337 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 102875337,
          "referenceAllele": "T",
          "start": 102875336
        }
      ],
      "hgvs": [
        "NC_000013.11:g.102875337T>G",
        "CM000675.2:g.102875337T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 103527687,
          "referenceAllele": "T",
          "start": 103527686
        }
      ],
      "hgvs": [
        "NC_000013.10:g.103527687T>G",
        "CM000675.1:g.103527687T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 102325688,
          "referenceAllele": "T",
          "start": 102325687
        }
      ],
      "hgvs": [
        "NC_000013.9:g.102325688T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34514,
          "referenceAllele": "T",
          "start": 34513
        }
      ],
      "hgvs": [
        "NG_007146.1:g.34514T>G",
        "LRG_464:g.34514T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000499"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4096,
          "referenceAllele": "T",
          "start": 4095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682632.1:n.4096T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3644,
          "referenceAllele": "T",
          "start": 3643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682869.1:n.3644T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4632,
          "referenceAllele": "T",
          "start": 4631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683246.1:n.4632T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3225,
          "referenceAllele": "T",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683642.1:n.3225T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4541,
          "referenceAllele": "T",
          "start": 4540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639132.1:c.3670T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492684.1:p.Leu1224Val",
        "hgvsWellDefined": "ENSP00000492684.1:p.Leu1224Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4975,
          "referenceAllele": "T",
          "start": 4974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639435.1:c.4357T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491742.1:p.Leu1453Val",
        "hgvsWellDefined": "ENSP00000491742.1:p.Leu1453Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3576,
          "referenceAllele": "T",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651002.1:c.*2756T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498809.1:n.*2756T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3122,
          "referenceAllele": "T",
          "start": 3121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651055.1:n.3122T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3363,
          "referenceAllele": "T",
          "start": 3362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651281.1:n.3363T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2479,
          "referenceAllele": "T",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651387.1:n.2479T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2941,
          "referenceAllele": "T",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651470.1:c.*167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498701.1:n.*167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3230,
          "referenceAllele": "T",
          "start": 3229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652225.2:c.2995T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498881.2:p.Leu999Val",
        "hgvsWellDefined": "ENSP00000498881.2:p.Leu999Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.2995T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.2995T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Leu999Val"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Leu999Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3388,
          "referenceAllele": "T",
          "start": 3387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652613.1:c.2491T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498357.1:p.Leu831Val",
        "hgvsWellDefined": "ENSP00000498357.1:p.Leu831Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4418,
          "referenceAllele": "T",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000355739.8:c.2995T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347978.4:p.Leu999Val",
        "hgvsWellDefined": "ENSP00000347978.4:p.Leu999Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2340,
          "referenceAllele": "T",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000375954.1:c.694T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365121.1:p.Leu232Val",
        "hgvsWellDefined": "ENSP00000365121.1:p.Leu232Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "T",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000472247.1:n.155T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3002,
          "referenceAllele": "T",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000610537.4:c.2992T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478667.1:p.Leu998Val",
        "hgvsWellDefined": "ENSP00000478667.1:p.Leu998Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA159005",
      "coordinates": [
        {
          "allele": "G",
          "end": 3421,
          "referenceAllele": "T",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.3:c.2995T>G",
        "LRG_464t1:c.2995T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.2:p.Leu999Val",
        "hgvsWellDefined": "NP_000114.2:p.Leu999Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA159004",
      "coordinates": [
        {
          "allele": "G",
          "end": 4479,
          "referenceAllele": "T",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.1:c.4357T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.1:p.Leu1453Val",
        "hgvsWellDefined": "NP_001191354.1:p.Leu1453Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061366",
      "coordinates": [
        {
          "allele": "G",
          "end": 3230,
          "referenceAllele": "T",
          "start": 3229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.4:c.2995T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.3:p.Leu999Val",
        "hgvsWellDefined": "NP_000114.3:p.Leu999Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.2995T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.2995T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Leu999Val"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Leu999Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826273366",
      "coordinates": [
        {
          "allele": "G",
          "end": 4479,
          "referenceAllele": "T",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.2:c.4357T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.2:p.Leu1453Val",
        "hgvsWellDefined": "NP_001191354.2:p.Leu1453Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679846"
    }
  ],
  "type": "nucleotide"
}