{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2461404282",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.169C= (p.Gln57=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852223",
        "rs": 137852223
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 139537090,
          "referenceAllele": "C",
          "start": 139537089
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139537090C=",
        "CM000685.2:g.139537090C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 138619249,
          "referenceAllele": "C",
          "start": 138619248
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138619249C=",
        "CM000685.1:g.138619249C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 138446915,
          "referenceAllele": "C",
          "start": 138446914
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138446915C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11355,
          "referenceAllele": "C",
          "start": 11354
        }
      ],
      "hgvs": [
        "NG_007994.1:g.11355C=",
        "LRG_556:g.11355C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.169C="
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.169C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Gln57="
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Gln57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169,
          "referenceAllele": "C",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000479617.2:n.176C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051399985",
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.169C=",
        "LRG_556t1:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051399985",
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.169C="
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.169C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Gln57="
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Gln57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}