{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA32401502",
  "communityStandardTitle": [
    "NM_000130.5(F5):c.373+5020G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169536439C>T?assembly=hg19",
        "id": "chr1:g.169536439C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169567201C>T?assembly=hg38",
        "id": "chr1:g.169567201C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7542281",
        "rs": 7542281
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169536439-C-T?dataset=gnomad_r2_1",
        "id": "1-169536439-C-T",
        "variant": "1:169536439 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169567201-C-T?dataset=gnomad_r3",
        "id": "1-169567201-C-T",
        "variant": "1:169567201 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169567201-C-T?dataset=gnomad_r4",
        "id": "1-169567201-C-T",
        "variant": "1:169567201 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169567201,
          "referenceAllele": "C",
          "start": 169567200
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169567201C>T",
        "CM000663.2:g.169567201C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169536439,
          "referenceAllele": "C",
          "start": 169536438
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169536439C>T",
        "CM000663.1:g.169536439C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 167803063,
          "referenceAllele": "C",
          "start": 167803062
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167803063C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24331,
          "referenceAllele": "G",
          "start": 24330
        }
      ],
      "hgvs": [
        "NG_011806.1:g.24331G>A",
        "LRG_553:g.24331G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 5020,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.9:c.373+5020G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:n.373+5020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.373+5020G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.373+5020G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:n.373+5020G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:n.373+5020G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 5020,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367796.3:c.373+5020G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356770.3:n.373+5020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 5020,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.7:c.373+5020G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:n.373+5020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 5020,
          "referenceAllele": "G",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.4:c.373+5020G>A",
        "LRG_553t1:c.373+5020G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:n.373+5020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 5020,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "XM_017000660.2:c.-39+5020G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856149.1:n.-39+5020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 5020,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.5:c.373+5020G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:n.373+5020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674717",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.373+5020G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.373+5020G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:n.373+5020G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:n.373+5020G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}