{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382900690",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.785-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2089215[alleleid]",
        "alleleId": 2089215,
        "preferredName": "NM_001164277.2(SLC37A4):c.786-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2030023",
        "RCV": [
          "RCV002881115"
        ],
        "variationId": 2030023
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118897400T>G?assembly=hg19",
        "id": "chr11:g.118897400T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119026690T>G?assembly=hg38",
        "id": "chr11:g.119026690T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2134633880",
        "rs": 2134633880
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119026690,
          "referenceAllele": "T",
          "start": 119026689
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119026690T>G",
        "CM000673.2:g.119026690T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118897400,
          "referenceAllele": "T",
          "start": 118897399
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118897400T>G",
        "CM000673.1:g.118897400T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118402610,
          "referenceAllele": "T",
          "start": 118402609
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118402610T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9216,
          "referenceAllele": "A",
          "start": 9215
        }
      ],
      "hgvs": [
        "NG_013331.1:g.9216A>C",
        "LRG_187:g.9216A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "endIntronDirection": "+",
          "endIntronOffset": 247,
          "referenceAllele": "A",
          "start": 1014,
          "startIntronDirection": "+",
          "startIntronOffset": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.1014+247A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697845.1:n.1185A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "endIntronDirection": "+",
          "endIntronOffset": 247,
          "referenceAllele": "A",
          "start": 1014,
          "startIntronDirection": "+",
          "startIntronOffset": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.1014+247A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1014,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.1015-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1014,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697848.1:n.1015-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2300,
          "referenceAllele": "A",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.2300A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1014,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.1015-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2621,
          "referenceAllele": "A",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.2621A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1088,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1088,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.1089-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.921-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.1022-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1190,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.1191-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1037,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1225,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1106,
          "endIntronDirection": "+",
          "endIntronOffset": 247,
          "referenceAllele": "A",
          "start": 1106,
          "startIntronDirection": "+",
          "startIntronOffset": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.1106+247A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1208,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.1209-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1542,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1542,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.1543-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 785,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.786-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526275.5:n.1567-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.1013-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "endIntronDirection": "+",
          "endIntronOffset": 247,
          "referenceAllele": "A",
          "start": 558,
          "startIntronDirection": "+",
          "startIntronOffset": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.558+247A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 934,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.935-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3642,
          "referenceAllele": "A",
          "start": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.3642A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "A",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532888.6:n.1327A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.566-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:n.566-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1541,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1541,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1541,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1541,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.785-2A>C",
        "LRG_187t1:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1225,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.566-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:n.566-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1037,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 938,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.566-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:n.566-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 895,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1008,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1512,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.785-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:n.785-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.785-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.785-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:n.785-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:n.785-2A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}