{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6546825",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.8546C>T (p.Ala2849Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1373937[alleleid]",
        "alleleId": 1373937,
        "preferredName": "NM_003482.4(KMT2D):c.8546C>T (p.Ala2849Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1417450",
        "RCV": [
          "RCV001938380"
        ],
        "variationId": 1417450
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49432593-G-A",
        "id": "12-49432593-G-A",
        "variant": "12:49432593 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49432593G>A?assembly=hg19",
        "id": "chr12:g.49432593G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49038810G>A?assembly=hg38",
        "id": "chr12:g.49038810G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370940954",
        "rs": 370940954
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49432593-G-A?dataset=gnomad_r2_1",
        "id": "12-49432593-G-A",
        "variant": "12:49432593 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49038810-G-A?dataset=gnomad_r3",
        "id": "12-49038810-G-A",
        "variant": "12:49038810 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49038810-G-A?dataset=gnomad_r4",
        "id": "12-49038810-G-A",
        "variant": "12:49038810 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49038810,
          "referenceAllele": "G",
          "start": 49038809
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49038810G>A",
        "CM000674.2:g.49038810G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49432593,
          "referenceAllele": "G",
          "start": 49432592
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49432593G>A",
        "CM000674.1:g.49432593G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47718860,
          "referenceAllele": "G",
          "start": 47718859
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47718860G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21515,
          "referenceAllele": "C",
          "start": 21514
        }
      ],
      "hgvs": [
        "NG_027827.1:g.21515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683043.1:n.245C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9765,
          "referenceAllele": "C",
          "start": 9764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Ala2849Val",
        "hgvsWellDefined": "ENSP00000506726.1:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8555,
          "referenceAllele": "C",
          "start": 8554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.8555C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Ala2852Val",
        "hgvsWellDefined": "ENSP00000509386.1:p.Ala2852Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000687201.1:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510037.1:p.Ala37Val",
        "hgvsWellDefined": "ENSP00000510037.1:p.Ala37Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689143.1:c.2149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509839.1:p.Pro717Ser",
        "hgvsWellDefined": "ENSP00000509839.1:p.Pro717Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8543,
          "referenceAllele": "C",
          "start": 8542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.8543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Ala2848Val",
        "hgvsWellDefined": "ENSP00000509666.1:p.Ala2848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692841.1:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508711.1:p.Ala37Val",
        "hgvsWellDefined": "ENSP00000508711.1:p.Ala37Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9765,
          "referenceAllele": "C",
          "start": 9764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ala2849Val",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.8546C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.8546C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ala2849Val"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ala2849Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ala2849Val",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "C",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000549799.1:n.188C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573230922",
      "coordinates": [
        {
          "allele": "T",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ala2849Val",
        "hgvsWellDefined": "NP_003473.3:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9840,
          "referenceAllele": "C",
          "start": 9839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ala2849Val",
        "hgvsWellDefined": "XP_005269219.1:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9849,
          "referenceAllele": "C",
          "start": 9848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.8555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ala2852Val",
        "hgvsWellDefined": "XP_006719677.1:p.Ala2852Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9836,
          "referenceAllele": "C",
          "start": 9835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.8543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ala2848Val",
        "hgvsWellDefined": "XP_006719679.1:p.Ala2848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9856,
          "referenceAllele": "C",
          "start": 9855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.8555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ala2852Val",
        "hgvsWellDefined": "XP_011537072.1:p.Ala2852Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9853,
          "referenceAllele": "C",
          "start": 9852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.8552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ala2851Val",
        "hgvsWellDefined": "XP_011537073.1:p.Ala2851Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9846,
          "referenceAllele": "C",
          "start": 9845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ala2849Val",
        "hgvsWellDefined": "XP_011537074.1:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9843,
          "referenceAllele": "C",
          "start": 9842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.8543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ala2848Val",
        "hgvsWellDefined": "XP_011537075.1:p.Ala2848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9836,
          "referenceAllele": "C",
          "start": 9835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.8534C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ala2845Val",
        "hgvsWellDefined": "XP_011537076.1:p.Ala2845Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9859,
          "referenceAllele": "C",
          "start": 9858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.8555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Ala2852Val",
        "hgvsWellDefined": "XP_011537077.1:p.Ala2852Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9763,
          "referenceAllele": "C",
          "start": 9762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.8462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ala2821Val",
        "hgvsWellDefined": "XP_011537078.1:p.Ala2821Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10875,
          "referenceAllele": "C",
          "start": 10874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.10875C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9825,
          "referenceAllele": "C",
          "start": 9824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ala2849Val",
        "hgvsWellDefined": "XP_005269219.1:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9835,
          "referenceAllele": "C",
          "start": 9834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.8555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ala2852Val",
        "hgvsWellDefined": "XP_006719677.1:p.Ala2852Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9822,
          "referenceAllele": "C",
          "start": 9821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.8543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ala2848Val",
        "hgvsWellDefined": "XP_006719679.1:p.Ala2848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9837,
          "referenceAllele": "C",
          "start": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.8555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ala2852Val",
        "hgvsWellDefined": "XP_011537072.1:p.Ala2852Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9834,
          "referenceAllele": "C",
          "start": 9833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.8552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ala2851Val",
        "hgvsWellDefined": "XP_011537073.1:p.Ala2851Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9828,
          "referenceAllele": "C",
          "start": 9827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ala2849Val",
        "hgvsWellDefined": "XP_011537074.1:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9825,
          "referenceAllele": "C",
          "start": 9824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.8543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ala2848Val",
        "hgvsWellDefined": "XP_011537075.1:p.Ala2848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9817,
          "referenceAllele": "C",
          "start": 9816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.8534C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ala2845Val",
        "hgvsWellDefined": "XP_011537076.1:p.Ala2845Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9744,
          "referenceAllele": "C",
          "start": 9743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.8462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ala2821Val",
        "hgvsWellDefined": "XP_011537078.1:p.Ala2821Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9864,
          "referenceAllele": "C",
          "start": 9863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.9864C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573230922",
      "coordinates": [
        {
          "allele": "T",
          "end": 9765,
          "referenceAllele": "C",
          "start": 9764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.8546C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ala2849Val",
        "hgvsWellDefined": "NP_003473.3:p.Ala2849Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.8546C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.8546C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ala2849Val"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ala2849Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}