{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605763",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.2489+1G>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=254911",
        "active": true,
        "id": "COSM254911"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1756818",
        "active": true,
        "id": "COSM1756818"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271670[alleleid]",
        "alleleId": 271670,
        "preferredName": "NM_000321.3(RB1):c.2489+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287433",
        "RCV": [
          "RCV000407067",
          "RCV000492739"
        ],
        "variationId": 287433
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49039505G>C?assembly=hg19",
        "id": "chr13:g.49039505G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48465369G>C?assembly=hg38",
        "id": "chr13:g.48465369G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764754259",
        "rs": 764754259
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48465369,
          "referenceAllele": "G",
          "start": 48465368
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48465369G>C",
        "CM000675.2:g.48465369G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 49039505,
          "referenceAllele": "G",
          "start": 49039504
        }
      ],
      "hgvs": [
        "NC_000013.10:g.49039505G>C",
        "CM000675.1:g.49039505G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 47937506,
          "referenceAllele": "G",
          "start": 47937505
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47937506G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166623,
          "referenceAllele": "G",
          "start": 166622
        }
      ],
      "hgvs": [
        "NG_009009.1:g.166623G>C",
        "LRG_517:g.166623G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2651,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2651,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.2489+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:n.2489+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2489+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2489+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:n.2489+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:n.2489+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 83926,
          "referenceAllele": "G",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 83925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.194+83926G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2655,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.2489+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:n.2489+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.2489+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:n.2489+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2655,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.2489+1G>C",
        "LRG_517t1:c.2489+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:n.2489+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2243,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2243,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.2228+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:n.2228+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2244,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2244,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.2228+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:n.2228+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2651,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2651,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.2489+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:n.2489+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2489+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2489+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:n.2489+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:n.2489+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}