{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA798107034",
  "communityStandardTitle": [
    "NM_000583.4(GC):c.1395+1289C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.72616946G>A?assembly=hg19",
        "id": "chr4:g.72616946G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.71751229G>A?assembly=hg38",
        "id": "chr4:g.71751229G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1166946625",
        "rs": 1166946625
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-71751229-G-A?dataset=gnomad_r3",
        "id": "4-71751229-G-A",
        "variant": "4:71751229 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-71751229-G-A?dataset=gnomad_r4",
        "id": "4-71751229-G-A",
        "variant": "4:71751229 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 71751229,
          "referenceAllele": "G",
          "start": 71751228
        }
      ],
      "hgvs": [
        "NC_000004.12:g.71751229G>A",
        "CM000666.2:g.71751229G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 72616946,
          "referenceAllele": "G",
          "start": 72616945
        }
      ],
      "hgvs": [
        "NC_000004.11:g.72616946G>A",
        "CM000666.1:g.72616946G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 72835810,
          "referenceAllele": "G",
          "start": 72835809
        }
      ],
      "hgvs": [
        "NC_000004.10:g.72835810G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59292,
          "referenceAllele": "C",
          "start": 59291
        }
      ],
      "hgvs": [
        "NG_012837.2:g.59292C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59292,
          "referenceAllele": "C",
          "start": 59291
        }
      ],
      "hgvs": [
        "NG_012837.3:g.59292C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673616"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000273951.13:c.1395+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273951.8:n.1395+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000273951.13:c.1395+1289C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000583.4:c.1395+1289C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000273951.8:n.1395+1289C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000574.2:n.1395+1289C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1739,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1739,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000273951.12:c.1395+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273951.8:n.1395+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "endIntronDirection": "+",
          "endIntronOffset": 3182,
          "referenceAllele": "C",
          "start": 68,
          "startIntronDirection": "+",
          "startIntronOffset": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000503364.5:n.68+3182C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1279,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1279,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000503472.5:n.1279+1289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1547,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000504199.5:c.1452+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421725.1:n.1452+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1312,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000509740.5:c.*218+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422664.1:n.*218+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1423,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "ENST00000513476.5:c.1395+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426683.1:n.1395+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1739,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1739,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "NM_000583.3:c.1395+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000574.2:n.1395+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1610,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "NM_001204306.1:c.1395+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191235.1:n.1395+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1547,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "NM_001204307.1:c.1452+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191236.1:n.1452+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "endIntronDirection": "+",
          "endIntronOffset": 3182,
          "referenceAllele": "C",
          "start": 1469,
          "startIntronDirection": "+",
          "startIntronOffset": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "XM_006714177.2:c.1262+3182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714240.1:n.1262+3182C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "endIntronDirection": "+",
          "endIntronOffset": 3182,
          "referenceAllele": "C",
          "start": 1323,
          "startIntronDirection": "+",
          "startIntronOffset": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "XM_006714177.3:c.1262+3182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714240.1:n.1262+3182C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 1289,
          "referenceAllele": "C",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004187",
      "geneNCBI_id": 2638,
      "geneSymbol": "GC",
      "hgvs": [
        "NM_000583.4:c.1395+1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000574.2:n.1395+1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000273951.13:c.1395+1289C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000583.4:c.1395+1289C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000273951.8:n.1395+1289C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000574.2:n.1395+1289C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}