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        "NM_078470.6:c.1029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:p.Leu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000016171.6:c.1029C>A"
          },
          "RefSeq": {
            "hgvs": "NM_078470.6:c.1029C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000016171.6:p.Leu343="
          },
          "RefSeq": {
            "hgvs": "NP_510870.1:p.Leu343="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NR_164009.1:n.869C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705670"
    }
  ],
  "type": "nucleotide"
}