{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414445985",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.1114C>G (p.Leu372Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.138643958C>G?assembly=hg19",
        "id": "chrX:g.138643958C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.139561799C>G?assembly=hg38",
        "id": "chrX:g.139561799C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 139561799,
          "referenceAllele": "C",
          "start": 139561798
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139561799C>G",
        "CM000685.2:g.139561799C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138643958,
          "referenceAllele": "C",
          "start": 138643957
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138643958C>G",
        "CM000685.1:g.138643958C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138471624,
          "referenceAllele": "C",
          "start": 138471623
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138471624C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36064,
          "referenceAllele": "C",
          "start": 36063
        }
      ],
      "hgvs": [
        "NG_007994.1:g.36064C>G",
        "LRG_556:g.36064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.1114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Leu372Val",
        "hgvsWellDefined": "ENSP00000218099.2:p.Leu372Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.1114C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.1114C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Leu372Val"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Leu372Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "endIntronDirection": "+",
          "endIntronOffset": 58,
          "referenceAllele": "C",
          "start": 1723,
          "startIntronDirection": "+",
          "startIntronOffset": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1723+58C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.1114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Leu372Val",
        "hgvsWellDefined": "ENSP00000218099.2:p.Leu372Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.1000C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Leu334Val",
        "hgvsWellDefined": "ENSP00000377650.2:p.Leu334Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051406288",
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.1114C>G",
        "LRG_556t1:c.1114C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Leu372Val",
        "hgvsWellDefined": "NP_000124.1:p.Leu372Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.1000C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Leu334Val",
        "hgvsWellDefined": "NP_001300842.1:p.Leu334Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.985C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Leu329Val",
        "hgvsWellDefined": "XP_005262454.1:p.Leu329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.985C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Leu329Val",
        "hgvsWellDefined": "XP_005262454.1:p.Leu329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051406288",
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.1114C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Leu372Val",
        "hgvsWellDefined": "NP_000124.1:p.Leu372Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.1114C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.1114C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Leu372Val"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Leu372Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.1000C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Leu334Val",
        "hgvsWellDefined": "NP_001300842.1:p.Leu334Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}