{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10529819",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.679G>A (p.Val227Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1602531[alleleid]",
        "alleleId": 1602531,
        "preferredName": "NM_000133.4(F9):c.679G>A (p.Val227Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1596936",
        "RCV": [
          "RCV002127085"
        ],
        "variationId": 1596936
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-138633379-G-A",
        "id": "X-138633379-G-A",
        "variant": "X:138633379 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.138633379G>A?assembly=hg19",
        "id": "chrX:g.138633379G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.139551220G>A?assembly=hg38",
        "id": "chrX:g.139551220G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852242",
        "rs": 137852242
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-138633379-G-A?dataset=gnomad_r2_1",
        "id": "X-138633379-G-A",
        "variant": "X:138633379 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-139551220-G-A?dataset=gnomad_r4",
        "id": "X-139551220-G-A",
        "variant": "X:139551220 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 139551220,
          "referenceAllele": "G",
          "start": 139551219
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139551220G>A",
        "CM000685.2:g.139551220G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 138633379,
          "referenceAllele": "G",
          "start": 138633378
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138633379G>A",
        "CM000685.1:g.138633379G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 138461045,
          "referenceAllele": "G",
          "start": 138461044
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138461045G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25485,
          "referenceAllele": "G",
          "start": 25484
        }
      ],
      "hgvs": [
        "NG_007994.1:g.25485G>A",
        "LRG_556:g.25485G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Val227Ile",
        "hgvsWellDefined": "ENSP00000218099.2:p.Val227Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.679G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.679G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Val227Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Val227Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1346G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Val227Ile",
        "hgvsWellDefined": "ENSP00000218099.2:p.Val227Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Val189Ile",
        "hgvsWellDefined": "ENSP00000377650.2:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573162459",
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.679G>A",
        "LRG_556t1:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Val227Ile",
        "hgvsWellDefined": "NP_000124.1:p.Val227Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826946928",
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Val189Ile",
        "hgvsWellDefined": "NP_001300842.1:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Val184Ile",
        "hgvsWellDefined": "XP_005262454.1:p.Val184Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Val184Ile",
        "hgvsWellDefined": "XP_005262454.1:p.Val184Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573162459",
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Val227Ile",
        "hgvsWellDefined": "NP_000124.1:p.Val227Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.679G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.679G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Val227Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Val227Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826946928",
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.565G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Val189Ile",
        "hgvsWellDefined": "NP_001300842.1:p.Val189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}