{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3956446",
  "communityStandardTitle": [
    "NM_014845.6(FIG4):c.2547-5T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301214[alleleid]",
        "alleleId": 301214,
        "preferredName": "NM_014845.6(FIG4):c.2547-5T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/355047",
        "RCV": [
          "RCV000324185",
          "RCV001095001",
          "RCV000475395",
          "RCV000858660",
          "RCV001173264",
          "RCV002429318"
        ],
        "variationId": 355047
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-110146286-T-G",
        "id": "6-110146286-T-G",
        "variant": "6:110146286 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.110146286T>G?assembly=hg19",
        "id": "chr6:g.110146286T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.109825083T>G?assembly=hg38",
        "id": "chr6:g.109825083T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200267243",
        "rs": 200267243
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-110146286-T-G?dataset=gnomad_r2_1",
        "id": "6-110146286-T-G",
        "variant": "6:110146286 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-109825083-T-G?dataset=gnomad_r3",
        "id": "6-109825083-T-G",
        "variant": "6:109825083 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-109825083-T-G?dataset=gnomad_r4",
        "id": "6-109825083-T-G",
        "variant": "6:109825083 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 109825083,
          "referenceAllele": "T",
          "start": 109825082
        }
      ],
      "hgvs": [
        "NC_000006.12:g.109825083T>G",
        "CM000668.2:g.109825083T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 110146286,
          "referenceAllele": "T",
          "start": 110146285
        }
      ],
      "hgvs": [
        "NC_000006.11:g.110146286T>G",
        "CM000668.1:g.110146286T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 110252979,
          "referenceAllele": "T",
          "start": 110252978
        }
      ],
      "hgvs": [
        "NC_000006.10:g.110252979T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138863,
          "referenceAllele": "T",
          "start": 138862
        }
      ],
      "hgvs": [
        "NG_007977.1:g.138863T>G",
        "LRG_241:g.138863T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000745"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2686,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000230124.8:c.2547-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230124.4:n.2547-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230124.8:c.2547-5T>G"
          },
          "RefSeq": {
            "hgvs": "NM_014845.6:c.2547-5T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230124.4:n.2547-5T>G"
          },
          "RefSeq": {
            "hgvs": "NP_055660.1:n.2547-5T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1460,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1460,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000415980.2:c.1053-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405660.2:n.1053-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5742,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 5742,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674532.1:n.5743-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2371,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2371,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674557.1:c.*1840-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501608.1:n.*1840-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2456,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2456,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674569.1:c.*1666-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502769.1:n.*1666-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2461,
          "referenceAllele": "T",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674571.1:c.*1686T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501633.1:n.*1686T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 978,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674573.1:n.979-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2481,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2481,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674575.1:c.*1666-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502276.1:n.*1666-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2463,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2463,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674641.1:c.2202-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501609.1:n.2202-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2546,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2546,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674649.1:c.*2240-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501669.1:n.*2240-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2546,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2546,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674657.1:c.*1979-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502314.1:n.*1979-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2695,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2695,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674744.1:c.2541-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501661.1:n.2541-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2586,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2586,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674778.1:c.*1765-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502742.1:n.*1765-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2724,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2724,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674783.1:c.*1462-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502755.1:n.*1462-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2685,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2685,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674884.1:c.2565-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502668.1:n.2565-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1925,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1925,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674930.1:c.*1585-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502657.1:n.*1585-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2628,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674933.1:c.2229-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502376.1:n.2229-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2551,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2551,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674956.1:c.*1761-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501904.1:n.*1761-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2682,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2682,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675004.1:c.*2412-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501868.1:n.*2412-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2286,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2286,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675009.1:c.*1931-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502098.1:n.*1931-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2463,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2463,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675096.1:c.2340-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502116.1:n.2340-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2865,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2865,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675122.1:c.*654-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501810.1:n.*654-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2525,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2525,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675153.1:c.*1264-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501682.1:n.*1264-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6844,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 6844,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675272.1:n.6845-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1203,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1203,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675301.1:n.1204-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2283,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675311.1:c.*1749-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501961.1:n.*1749-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2175,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2175,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675426.1:c.*1615-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501819.1:n.*1615-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2694,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2694,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675523.1:c.2316-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502384.1:n.2316-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5610,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 5610,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675552.1:c.*4810-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502197.1:n.*4810-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2646,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2646,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675726.1:c.2460-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502452.1:n.2460-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "endIntronDirection": "+",
          "endIntronOffset": 28232,
          "referenceAllele": "T",
          "start": 2686,
          "startIntronDirection": "+",
          "startIntronOffset": 28231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675772.1:c.2546+28232T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501678.1:n.2546+28232T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2276,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675831.1:c.2154-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502382.1:n.2154-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2168,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675849.1:n.2169-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1391,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675879.1:c.1392-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3879,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 3879,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675954.1:n.3880-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5180,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 5180,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675991.1:c.*4374-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502162.1:n.*4374-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675994.1:c.*1686-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502419.1:n.*1686-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2397,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2397,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676021.1:c.*1125-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502746.1:n.*1125-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2876,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2876,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676037.1:c.*474-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502181.1:n.*474-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5193,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 5193,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676136.1:n.5194-5T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2588,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2588,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676442.1:c.2418-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502595.1:n.2418-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2670,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2670,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000230124.7:c.2547-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230124.3:n.2547-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2761,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2761,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NM_014845.5:c.2547-5T>G",
        "LRG_241t1:c.2547-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055660.1:n.2547-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2629,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2629,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_011536281.1:c.2484-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534583.1:n.2484-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3294,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 3294,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_011536281.3:c.2484-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534583.1:n.2484-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2529,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2529,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011592.1:c.1998-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867081.1:n.1998-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2456,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2456,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011593.2:c.1617-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867082.1:n.1617-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 2686,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NM_014845.6:c.2547-5T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055660.1:n.2547-5T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230124.8:c.2547-5T>G"
          },
          "RefSeq": {
            "hgvs": "NM_014845.6:c.2547-5T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230124.4:n.2547-5T>G"
          },
          "RefSeq": {
            "hgvs": "NP_055660.1:n.2547-5T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}