{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1233597",
  "communityStandardTitle": [
    "NM_000130.5(F5):c.4972-14A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278307[alleleid]",
        "alleleId": 278307,
        "preferredName": "NM_000130.5(F5):c.4972-14A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/293592",
        "RCV": [
          "RCV000278998",
          "RCV000303389",
          "RCV000343414",
          "RCV000391096",
          "RCV003761894"
        ],
        "variationId": 293592
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-169500274-T-G",
        "id": "1-169500274-T-G",
        "variant": "1:169500274 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169500274T>G?assembly=hg19",
        "id": "chr1:g.169500274T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169531036T>G?assembly=hg38",
        "id": "chr1:g.169531036T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763080313",
        "rs": 763080313
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169500274-T-G?dataset=gnomad_r2_1",
        "id": "1-169500274-T-G",
        "variant": "1:169500274 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169531036-T-G?dataset=gnomad_r3",
        "id": "1-169531036-T-G",
        "variant": "1:169531036 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169531036-T-G?dataset=gnomad_r4",
        "id": "1-169531036-T-G",
        "variant": "1:169531036 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169531036,
          "referenceAllele": "T",
          "start": 169531035
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169531036T>G",
        "CM000663.2:g.169531036T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169500274,
          "referenceAllele": "T",
          "start": 169500273
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169500274T>G",
        "CM000663.1:g.169500274T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 167766898,
          "referenceAllele": "T",
          "start": 167766897
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167766898T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60496,
          "referenceAllele": "A",
          "start": 60495
        }
      ],
      "hgvs": [
        "NG_011806.1:g.60496A>C",
        "LRG_553:g.60496A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5066,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 5066,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.9:c.4972-14A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:n.4972-14A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.4972-14A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.4972-14A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:n.4972-14A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:n.4972-14A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5188,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 5188,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367796.3:c.4987-14A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356770.3:n.4987-14A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5173,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 5173,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.7:c.4972-14A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:n.4972-14A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5116,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 5116,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.4:c.4972-14A>C",
        "LRG_553t1:c.4972-14A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:n.4972-14A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5123,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 5123,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "XM_017000660.2:c.4561-14A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856149.1:n.4561-14A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5066,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 5066,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.5:c.4972-14A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:n.4972-14A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674717",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.4972-14A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.4972-14A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:n.4972-14A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:n.4972-14A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}