{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13830799",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.1814+394G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49027641G>A?assembly=hg19",
        "id": "chr13:g.49027641G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48453505G>A?assembly=hg38",
        "id": "chr13:g.48453505G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4151580",
        "rs": 4151580
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-49027641-G-A?dataset=gnomad_r2_1",
        "id": "13-49027641-G-A",
        "variant": "13:49027641 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48453505-G-A?dataset=gnomad_r3",
        "id": "13-48453505-G-A",
        "variant": "13:48453505 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48453505-G-A?dataset=gnomad_r4",
        "id": "13-48453505-G-A",
        "variant": "13:48453505 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 48453505,
          "referenceAllele": "G",
          "start": 48453504
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48453505G>A",
        "CM000675.2:g.48453505G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 49027641,
          "referenceAllele": "G",
          "start": 49027640
        }
      ],
      "hgvs": [
        "NC_000013.10:g.49027641G>A",
        "CM000675.1:g.49027641G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 47925642,
          "referenceAllele": "G",
          "start": 47925641
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47925642G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154759,
          "referenceAllele": "G",
          "start": 154758
        }
      ],
      "hgvs": [
        "NG_009009.1:g.154759G>A",
        "LRG_517:g.154759G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.1814+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:n.1814+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.1814+394G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.1814+394G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:n.1814+394G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:n.1814+394G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 72062,
          "referenceAllele": "G",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 72061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.194+72062G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1980,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.1814+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:n.1814+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.1814+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:n.1814+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000480491.1:n.513+394G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1980,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.1814+394G>A",
        "LRG_517t1:c.1814+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:n.1814+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1568,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.1553+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:n.1553+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1569,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.1553+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:n.1553+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "G",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.1814+394G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:n.1814+394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.1814+394G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.1814+394G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:n.1814+394G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:n.1814+394G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}