{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388167062",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.2134T>A (p.Cys712Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1420738[alleleid]",
        "alleleId": 1420738,
        "preferredName": "NM_000321.3(RB1):c.2134T>A (p.Cys712Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1517836",
        "RCV": [
          "RCV002021313"
        ],
        "variationId": 1517836
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49037894T>A?assembly=hg19",
        "id": "chr13:g.49037894T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48463758T>A?assembly=hg38",
        "id": "chr13:g.48463758T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853296",
        "rs": 137853296
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 48463758,
          "referenceAllele": "T",
          "start": 48463757
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48463758T>A",
        "CM000675.2:g.48463758T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 49037894,
          "referenceAllele": "T",
          "start": 49037893
        }
      ],
      "hgvs": [
        "NC_000013.10:g.49037894T>A",
        "CM000675.1:g.49037894T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 47935895,
          "referenceAllele": "T",
          "start": 47935894
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47935895T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165012,
          "referenceAllele": "T",
          "start": 165011
        }
      ],
      "hgvs": [
        "NG_009009.1:g.165012T>A",
        "LRG_517:g.165012T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2296,
          "referenceAllele": "T",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.2134T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Cys712Ser",
        "hgvsWellDefined": "ENSP00000267163.4:p.Cys712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2134T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2134T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Cys712Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Cys712Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 82315,
          "referenceAllele": "T",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 82314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.194+82315T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "referenceAllele": "T",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.2134T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Cys712Ser",
        "hgvsWellDefined": "ENSP00000497193.1:p.Cys712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.2134T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Cys712Ser",
        "hgvsWellDefined": "ENSP00000267163.4:p.Cys712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166895",
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "referenceAllele": "T",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.2134T>A",
        "LRG_517t1:c.2134T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Cys712Ser",
        "hgvsWellDefined": "NP_000312.2:p.Cys712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "T",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.1873T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Cys625Ser",
        "hgvsWellDefined": "XP_011533473.1:p.Cys625Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1889,
          "referenceAllele": "T",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.1873T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Cys625Ser",
        "hgvsWellDefined": "XP_011533473.1:p.Cys625Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166895",
      "coordinates": [
        {
          "allele": "A",
          "end": 2296,
          "referenceAllele": "T",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.2134T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Cys712Ser",
        "hgvsWellDefined": "NP_000312.2:p.Cys712Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2134T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2134T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Cys712Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Cys712Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}