{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121125",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.580A>G (p.Thr194Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1465968"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25627[alleleid]",
        "alleleId": 25627,
        "preferredName": "NM_000133.4(F9):c.580A>G (p.Thr194Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10588",
        "RCV": [
          "RCV000011334",
          "RCV000244191",
          "RCV000396693",
          "RCV001521358",
          "RCV001701639",
          "RCV001810847"
        ],
        "variationId": 10588
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-138633280-A-G",
        "id": "X-138633280-A-G",
        "variant": "X:138633280 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.138633280A>G?assembly=hg19",
        "id": "chrX:g.138633280A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.139551121A>G?assembly=hg38",
        "id": "chrX:g.139551121A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6048",
        "rs": 6048
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-138633280-A-G?dataset=gnomad_r2_1",
        "id": "X-138633280-A-G",
        "variant": "X:138633280 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-139551121-A-G?dataset=gnomad_r3",
        "id": "X-139551121-A-G",
        "variant": "X:139551121 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-139551121-A-G?dataset=gnomad_r4",
        "id": "X-139551121-A-G",
        "variant": "X:139551121 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 139551121,
          "referenceAllele": "A",
          "start": 139551120
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139551121A>G",
        "CM000685.2:g.139551121A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138633280,
          "referenceAllele": "A",
          "start": 138633279
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138633280A>G",
        "CM000685.1:g.138633280A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138460946,
          "referenceAllele": "A",
          "start": 138460945
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138460946A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25386,
          "referenceAllele": "A",
          "start": 25385
        }
      ],
      "hgvs": [
        "NG_007994.1:g.25386A>G",
        "LRG_556:g.25386A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.580A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Thr194Ala",
        "hgvsWellDefined": "ENSP00000218099.2:p.Thr194Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.580A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.580A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Thr194Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Thr194Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "A",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1247A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "A",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.580A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Thr194Ala",
        "hgvsWellDefined": "ENSP00000218099.2:p.Thr194Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "A",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Thr156Ala",
        "hgvsWellDefined": "ENSP00000377650.2:p.Thr156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121127",
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.580A>G",
        "LRG_556t1:c.580A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Thr194Ala",
        "hgvsWellDefined": "NP_000124.1:p.Thr194Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826946909",
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Thr156Ala",
        "hgvsWellDefined": "NP_001300842.1:p.Thr156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "referenceAllele": "A",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Thr151Ala",
        "hgvsWellDefined": "XP_005262454.1:p.Thr151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Thr151Ala",
        "hgvsWellDefined": "XP_005262454.1:p.Thr151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121127",
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.580A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Thr194Ala",
        "hgvsWellDefined": "NP_000124.1:p.Thr194Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.580A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.580A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Thr194Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Thr194Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826946909",
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "A",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Thr156Ala",
        "hgvsWellDefined": "NP_001300842.1:p.Thr156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}