{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414907033",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321190[alleleid]",
        "alleleId": 1321190,
        "preferredName": "NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330511",
        "RCV": [
          "RCV001803603"
        ],
        "variationId": 1330511
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154091382C>G?assembly=hg19",
        "id": "chrX:g.154091382C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154863107C>G?assembly=hg38",
        "id": "chrX:g.154863107C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148568062",
        "rs": 2148568062
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154863107,
          "referenceAllele": "C",
          "start": 154863106
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154863107C>G",
        "CM000685.2:g.154863107C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154091382,
          "referenceAllele": "C",
          "start": 154091381
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154091382C>G",
        "CM000685.1:g.154091382C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153744576,
          "referenceAllele": "C",
          "start": 153744575
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153744576C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164617,
          "referenceAllele": "G",
          "start": 164616
        }
      ],
      "hgvs": [
        "NG_011403.1:g.164617G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164617,
          "referenceAllele": "G",
          "start": 164616
        }
      ],
      "hgvs": [
        "NG_011403.2:g.164617G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6721,
          "referenceAllele": "G",
          "start": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.6550G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Glu2184Gln",
        "hgvsWellDefined": "ENSP00000353393.4:p.Glu2184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6550G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6550G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Glu2184Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Glu2184Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000644698.1:c.283G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495706.1:p.Glu95Gln",
        "hgvsWellDefined": "ENSP00000495706.1:p.Glu95Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000330287.10:c.145G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:p.Glu49Gln",
        "hgvsWellDefined": "ENSP00000327895.6:p.Glu49Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6751,
          "referenceAllele": "G",
          "start": 6750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.6550G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Glu2184Gln",
        "hgvsWellDefined": "ENSP00000353393.4:p.Glu2184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825051084",
      "coordinates": [
        {
          "allele": "C",
          "end": 6721,
          "referenceAllele": "G",
          "start": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.6550G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Glu2184Gln",
        "hgvsWellDefined": "NP_000123.1:p.Glu2184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573093967",
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.145G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Glu49Gln",
        "hgvsWellDefined": "NP_063916.1:p.Glu49Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6562,
          "referenceAllele": "G",
          "start": 6561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.6445G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Glu2149Gln",
        "hgvsWellDefined": "XP_011529428.1:p.Glu2149Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825051084",
      "coordinates": [
        {
          "allele": "C",
          "end": 6721,
          "referenceAllele": "G",
          "start": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.6550G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Glu2184Gln",
        "hgvsWellDefined": "NP_000123.1:p.Glu2184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6550G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6550G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Glu2184Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Glu2184Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573093967",
      "coordinates": [
        {
          "allele": "C",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.3:c.145G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Glu49Gln",
        "hgvsWellDefined": "NP_063916.1:p.Glu49Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}