{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388712523",
  "communityStandardTitle": [
    "NM_004115.4(FGF14):c.408+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1780780[alleleid]",
        "alleleId": 1780780,
        "preferredName": "NM_004115.4(FGF14):c.408+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1723288",
        "RCV": [
          "RCV002308564",
          "RCV003408225"
        ],
        "variationId": 1723288
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102521074C>T?assembly=hg19",
        "id": "chr13:g.102521074C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101868724C>T?assembly=hg38",
        "id": "chr13:g.101868724C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2501856727",
        "rs": 2501856727
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-101868724-C-T?dataset=gnomad_r4",
        "id": "13-101868724-C-T",
        "variant": "13:101868724 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 101868724,
          "referenceAllele": "C",
          "start": 101868723
        }
      ],
      "hgvs": [
        "NC_000013.11:g.101868724C>T",
        "CM000675.2:g.101868724C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 102521074,
          "referenceAllele": "C",
          "start": 102521073
        }
      ],
      "hgvs": [
        "NC_000013.10:g.102521074C>T",
        "CM000675.1:g.102521074C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 101319075,
          "referenceAllele": "C",
          "start": 101319074
        }
      ],
      "hgvs": [
        "NC_000013.9:g.101319075C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538051,
          "referenceAllele": "G",
          "start": 538050
        }
      ],
      "hgvs": [
        "NG_008317.1:g.538051G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538051,
          "referenceAllele": "G",
          "start": 538050
        }
      ],
      "hgvs": [
        "NG_008317.2:g.538051G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673498"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000376131.9:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365301.3:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 674,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000418923.3:c.306+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516414.1:n.306+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 724,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000706491.1:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516413.1:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 851,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000706492.1:c.*227+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516415.1:n.*227+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000706493.1:c.*322+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516416.1:n.*322+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000706494.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516417.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000376143.5:c.408+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365313.4:n.408+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376143.5:c.408+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004115.4:c.408+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365313.4:n.408+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004106.1:n.408+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000376131.8:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365301.3:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000376143.4:c.408+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365313.4:n.408+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "ENST00000468052.1:n.214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_004115.3:c.408+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004106.1:n.408+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_175929.2:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_787125.1:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 429,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "XM_011521053.1:c.228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519355.1:n.228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321931.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308860.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 758,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321932.1:c.219+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308861.1:n.219+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 668,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321933.1:c.228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308862.1:n.228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321934.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308863.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321935.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308864.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321936.1:c.219+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308865.1:n.219+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 777,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321937.1:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308866.1:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 659,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321938.1:c.228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308867.1:n.228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 666,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 666,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321939.1:c.312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308868.1:n.312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1014,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321940.1:c.228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308869.1:n.228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 846,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321941.1:c.222+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308870.1:n.222+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 853,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321942.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308871.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321943.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308872.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321944.1:c.219+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308873.1:n.219+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321945.1:c.306+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308874.1:n.306+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321946.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308875.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321947.1:c.267+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308876.1:n.267+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321948.1:c.306+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308877.1:n.306+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1342,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321949.1:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308878.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321938.2:c.228+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308867.1:n.228+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321945.2:c.306+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308874.1:n.306+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 770,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321946.2:c.156+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308875.1:n.156+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321947.2:c.267+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308876.1:n.267+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321948.2:c.306+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308877.1:n.306+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321937.2:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308866.1:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 682,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321939.2:c.312+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308868.1:n.312+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 860,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001321941.2:c.222+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308870.1:n.222+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_001379342.1:c.306+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366271.1:n.306+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_004115.4:c.408+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004106.1:n.408+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727477",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376143.5:c.408+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004115.4:c.408+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365313.4:n.408+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004106.1:n.408+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003671",
      "geneNCBI_id": 2259,
      "geneSymbol": "FGF14",
      "hgvs": [
        "NM_175929.3:c.423+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_787125.1:n.423+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729633"
    }
  ],
  "type": "nucleotide"
}