{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3716855",
  "communityStandardTitle": [
    "NM_004638.4(PRRC2A):c.6334-24G>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN26731373"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31605199-G-C",
        "id": "6-31605199-G-C",
        "variant": "6:31605199 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31605199G>C?assembly=hg19",
        "id": "chr6:g.31605199G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31637422G>C?assembly=hg38",
        "id": "chr6:g.31637422G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2736155",
        "rs": 2736155
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31605199-G-C?dataset=gnomad_r2_1",
        "id": "6-31605199-G-C",
        "variant": "6:31605199 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31637422-G-C?dataset=gnomad_r3",
        "id": "6-31637422-G-C",
        "variant": "6:31637422 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31637422-G-C?dataset=gnomad_r4",
        "id": "6-31637422-G-C",
        "variant": "6:31637422 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31637422,
          "referenceAllele": "G",
          "start": 31637421
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31637422G>C",
        "CM000668.2:g.31637422G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31605199,
          "referenceAllele": "G",
          "start": 31605198
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31605199G>C",
        "CM000668.1:g.31605199G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31713178,
          "referenceAllele": "G",
          "start": 31713177
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31713178G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6577,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6577,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376033.3:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365201.2:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376033.3:c.6334-24G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004638.4:c.6334-24G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365201.2:n.6334-24G>C"
          },
          "RefSeq": {
            "hgvs": "NP_004629.3:n.6334-24G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6535,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6535,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376007.8:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365175.4:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6567,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6567,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376033.2:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365201.2:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000462617.1:n.666G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 393,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000482441.1:n.394-24G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000492691.5:n.769G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6619,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6619,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_004638.3:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004629.3:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6582,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6582,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_080686.2:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542417.2:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6270,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6270,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "XM_011514890.1:c.6121-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513192.1:n.6121-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6121,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6121,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "XM_017011274.1:c.6121-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866763.1:n.6121-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6577,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6577,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_004638.4:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004629.3:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696200",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376033.3:c.6334-24G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004638.4:c.6334-24G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365201.2:n.6334-24G>C"
          },
          "RefSeq": {
            "hgvs": "NP_004629.3:n.6334-24G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6540,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 6540,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_080686.3:c.6334-24G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542417.2:n.6334-24G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699537"
    }
  ],
  "type": "nucleotide"
}