{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466828922",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.5336G= (p.Gly1779=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937289",
        "rs": 28937289
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154906457,
          "referenceAllele": "C",
          "start": 154906456
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154906457C=",
        "CM000685.2:g.154906457C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154134732,
          "referenceAllele": "C",
          "start": 154134731
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154134732C=",
        "CM000685.1:g.154134732C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153787926,
          "referenceAllele": "C",
          "start": 153787925
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153787926C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121267,
          "referenceAllele": "G",
          "start": 121266
        }
      ],
      "hgvs": [
        "NG_011403.1:g.121267G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121267,
          "referenceAllele": "G",
          "start": 121266
        }
      ],
      "hgvs": [
        "NG_011403.2:g.121267G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5507,
          "referenceAllele": "G",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.5336G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gly1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.5336G="
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.5336G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gly1779="
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gly1779="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5537,
          "referenceAllele": "G",
          "start": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.5336G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gly1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190798",
      "coordinates": [
        {
          "allele": "G",
          "end": 5507,
          "referenceAllele": "G",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.5336G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gly1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5348,
          "referenceAllele": "G",
          "start": 5347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.5231G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Gly1744="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190798",
      "coordinates": [
        {
          "allele": "G",
          "end": 5507,
          "referenceAllele": "G",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.5336G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gly1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.5336G="
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.5336G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gly1779="
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gly1779="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}