{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10567777",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.6696A>G (p.Gln2232=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321297[alleleid]",
        "alleleId": 1321297,
        "preferredName": "NM_000132.4(F8):c.6696A>G (p.Gln2232=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330618",
        "RCV": [
          "RCV001802277",
          "RCV003355550"
        ],
        "variationId": 1330618
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-154090020-T-C",
        "id": "X-154090020-T-C",
        "variant": "X:154090020 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154090020T>C?assembly=hg19",
        "id": "chrX:g.154090020T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154861745T>C?assembly=hg38",
        "id": "chrX:g.154861745T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201870876",
        "rs": 201870876
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154090020-T-C?dataset=gnomad_r2_1",
        "id": "X-154090020-T-C",
        "variant": "X:154090020 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154861745-T-C?dataset=gnomad_r3",
        "id": "X-154861745-T-C",
        "variant": "X:154861745 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154861745-T-C?dataset=gnomad_r4",
        "id": "X-154861745-T-C",
        "variant": "X:154861745 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154861745,
          "referenceAllele": "T",
          "start": 154861744
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154861745T>C",
        "CM000685.2:g.154861745T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154090020,
          "referenceAllele": "T",
          "start": 154090019
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154090020T>C",
        "CM000685.1:g.154090020T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153743214,
          "referenceAllele": "T",
          "start": 153743213
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153743214T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165979,
          "referenceAllele": "A",
          "start": 165978
        }
      ],
      "hgvs": [
        "NG_011403.1:g.165979A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165979,
          "referenceAllele": "A",
          "start": 165978
        }
      ],
      "hgvs": [
        "NG_011403.2:g.165979A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6867,
          "referenceAllele": "A",
          "start": 6866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.6696A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln2232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6696A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6696A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln2232="
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln2232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "A",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000644698.1:c.429A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495706.1:p.Gln143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000330287.10:c.291A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:p.Gln97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6897,
          "referenceAllele": "A",
          "start": 6896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.6696A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln2232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825051102",
      "coordinates": [
        {
          "allele": "G",
          "end": 6867,
          "referenceAllele": "A",
          "start": 6866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.6696A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln2232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829907272",
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.291A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Gln97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6708,
          "referenceAllele": "A",
          "start": 6707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.6591A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Gln2197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825051102",
      "coordinates": [
        {
          "allele": "G",
          "end": 6867,
          "referenceAllele": "A",
          "start": 6866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.6696A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln2232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6696A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6696A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln2232="
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln2232="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829907272",
      "coordinates": [
        {
          "allele": "G",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.3:c.291A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Gln97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}