{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915952189",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.1444-3C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800288[alleleid]",
        "alleleId": 800288,
        "preferredName": "NM_000132.4(F8):c.1444-3C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/811361",
        "RCV": [
          "RCV001001168"
        ],
        "variationId": 811361
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1603435027",
        "rs": 1603435027
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154961171-G-C?dataset=gnomad_r4",
        "id": "X-154961171-G-C",
        "variant": "X:154961171 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154961171,
          "referenceAllele": "G",
          "start": 154961170
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154961171G>C",
        "CM000685.2:g.154961171G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154189446,
          "referenceAllele": "G",
          "start": 154189445
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154189446G>C",
        "CM000685.1:g.154189446G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153842640,
          "referenceAllele": "G",
          "start": 153842639
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153842640G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66553,
          "referenceAllele": "C",
          "start": 66552
        }
      ],
      "hgvs": [
        "NG_011403.1:g.66553C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66553,
          "referenceAllele": "C",
          "start": 66552
        }
      ],
      "hgvs": [
        "NG_011403.2:g.66553C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1614,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.1444-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:n.1444-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.1444-3C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.1444-3C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:n.1444-3C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:n.1444-3C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1674,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000647125.1:c.*1320-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496062.1:n.*1320-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1644,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.1444-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:n.1444-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1614,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.1444-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:n.1444-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1455,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.1339-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:n.1339-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1614,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.1444-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:n.1444-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.1444-3C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.1444-3C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:n.1444-3C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:n.1444-3C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}