{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388250651",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.240A>C (p.Lys80Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1942254",
        "active": true,
        "id": "COSM1942254"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1942255",
        "active": true,
        "id": "COSM1942255"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48881518A>C?assembly=hg19",
        "id": "chr13:g.48881518A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48307382A>C?assembly=hg38",
        "id": "chr13:g.48307382A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48307382,
          "referenceAllele": "A",
          "start": 48307381
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48307382A>C",
        "CM000675.2:g.48307382A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48881518,
          "referenceAllele": "A",
          "start": 48881517
        }
      ],
      "hgvs": [
        "NC_000013.10:g.48881518A>C",
        "CM000675.1:g.48881518A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 47779519,
          "referenceAllele": "A",
          "start": 47779518
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47779519A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8636,
          "referenceAllele": "A",
          "start": 8635
        }
      ],
      "hgvs": [
        "NG_009009.1:g.8636A>C",
        "LRG_517:g.8636A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.240A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Lys80Asn",
        "hgvsWellDefined": "ENSP00000267163.4:p.Lys80Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.240A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.240A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Lys80Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Lys80Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "referenceAllele": "A",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000646097.1:c.240A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496556.1:p.Lys80Asn",
        "hgvsWellDefined": "ENSP00000496556.1:p.Lys80Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.240A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Lys80Asn",
        "hgvsWellDefined": "ENSP00000497193.1:p.Lys80Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.240A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Lys80Asn",
        "hgvsWellDefined": "ENSP00000267163.4:p.Lys80Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 3333,
          "referenceAllele": "A",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.137+3333A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:n.137+3333A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000525036.1:n.402A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121302",
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.240A>C",
        "LRG_517t1:c.240A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Lys80Asn",
        "hgvsWellDefined": "NP_000312.2:p.Lys80Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121302",
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.240A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Lys80Asn",
        "hgvsWellDefined": "NP_000312.2:p.Lys80Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.240A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.240A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Lys80Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Lys80Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}