{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2461412183",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.1120G= (p.Val374=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852271",
        "rs": 137852271
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 139561805,
          "referenceAllele": "G",
          "start": 139561804
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139561805G=",
        "CM000685.2:g.139561805G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138643964,
          "referenceAllele": "G",
          "start": 138643963
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138643964G=",
        "CM000685.1:g.138643964G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138471630,
          "referenceAllele": "G",
          "start": 138471629
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138471630G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36070,
          "referenceAllele": "G",
          "start": 36069
        }
      ],
      "hgvs": [
        "NG_007994.1:g.36070G=",
        "LRG_556:g.36070G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Val374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.1120G="
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.1120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Val374="
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Val374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "endIntronDirection": "+",
          "endIntronOffset": 64,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "+",
          "startIntronOffset": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1723+64G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Val374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Val336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051406329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.1120G=",
        "LRG_556t1:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Val374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Val336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.991G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Val331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.991G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Val331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051406329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Val374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.1120G="
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.1120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Val374="
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Val374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Val336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}