{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16614037",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.148G>C (p.Glu50Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399508[alleleid]",
        "alleleId": 399508,
        "preferredName": "NM_000321.3(RB1):c.148G>C (p.Glu50Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410937",
        "RCV": [
          "RCV000461996",
          "RCV002393152"
        ],
        "variationId": 410937
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48881426G>C?assembly=hg19",
        "id": "chr13:g.48881426G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48307290G>C?assembly=hg38",
        "id": "chr13:g.48307290G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503085",
        "rs": 1060503085
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48881426-G-C?dataset=gnomad_r2_1",
        "id": "13-48881426-G-C",
        "variant": "13:48881426 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48307290-G-C?dataset=gnomad_r3",
        "id": "13-48307290-G-C",
        "variant": "13:48307290 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48307290-G-C?dataset=gnomad_r4",
        "id": "13-48307290-G-C",
        "variant": "13:48307290 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48307290,
          "referenceAllele": "G",
          "start": 48307289
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48307290G>C",
        "CM000675.2:g.48307290G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48881426,
          "referenceAllele": "G",
          "start": 48881425
        }
      ],
      "hgvs": [
        "NC_000013.10:g.48881426G>C",
        "CM000675.1:g.48881426G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 47779427,
          "referenceAllele": "G",
          "start": 47779426
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47779427G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8544,
          "referenceAllele": "G",
          "start": 8543
        }
      ],
      "hgvs": [
        "NG_009009.1:g.8544G>C",
        "LRG_517:g.8544G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.148G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Glu50Gln",
        "hgvsWellDefined": "ENSP00000267163.4:p.Glu50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.148G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.148G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Glu50Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Glu50Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000646097.1:c.148G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496556.1:p.Glu50Gln",
        "hgvsWellDefined": "ENSP00000496556.1:p.Glu50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.148G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Glu50Gln",
        "hgvsWellDefined": "ENSP00000497193.1:p.Glu50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.148G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Glu50Gln",
        "hgvsWellDefined": "ENSP00000267163.4:p.Glu50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 3241,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 3240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.137+3241G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:n.137+3241G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000525036.1:n.310G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413611",
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.148G>C",
        "LRG_517t1:c.148G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Glu50Gln",
        "hgvsWellDefined": "NP_000312.2:p.Glu50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413611",
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.148G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Glu50Gln",
        "hgvsWellDefined": "NP_000312.2:p.Glu50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.148G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.148G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Glu50Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Glu50Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}