{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384675752",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445018[alleleid]",
        "alleleId": 445018,
        "preferredName": "NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449044",
        "RCV": [
          "RCV000523702",
          "RCV001261320",
          "RCV004541628"
        ],
        "variationId": 449044
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49415849G>A?assembly=hg19",
        "id": "chr12:g.49415849G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49022066G>A?assembly=hg38",
        "id": "chr12:g.49022066G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555184609",
        "rs": 1555184609
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49022066,
          "referenceAllele": "G",
          "start": 49022065
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49022066G>A",
        "CM000674.2:g.49022066G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49415849,
          "referenceAllele": "G",
          "start": 49415848
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49415849G>A",
        "CM000674.1:g.49415849G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47702116,
          "referenceAllele": "G",
          "start": 47702115
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47702116G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38259,
          "referenceAllele": "C",
          "start": 38258
        }
      ],
      "hgvs": [
        "NG_027827.1:g.38259C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "hgvs": [
        "ENST00000526209.2:c.468C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000681974.1:n.1170C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
          "referenceAllele": "C",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000682693.1:n.2132C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000682886.1:n.904C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17765,
          "referenceAllele": "C",
          "start": 17764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.16546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Arg5516Trp",
        "hgvsWellDefined": "ENSP00000506726.1:p.Arg5516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "hgvs": [
        "ENST00000683988.1:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506939.1:p.Arg157Trp",
        "hgvsWellDefined": "ENSP00000506939.1:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000684428.1:c.1091C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507433.1:n.1091C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685024.1:c.1652C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16507,
          "referenceAllele": "C",
          "start": 16506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.16507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Arg5503Trp",
        "hgvsWellDefined": "ENSP00000509386.1:p.Arg5503Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000691932.1:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509037.1:p.Arg167Trp",
        "hgvsWellDefined": "ENSP00000509037.1:p.Arg167Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16495,
          "referenceAllele": "C",
          "start": 16494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.16495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Arg5499Trp",
        "hgvsWellDefined": "ENSP00000509666.1:p.Arg5499Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17717,
          "referenceAllele": "C",
          "start": 17716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.16498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg5500Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg5500Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.16498C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.16498C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg5500Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg5500Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16498,
          "referenceAllele": "C",
          "start": 16497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.16498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg5500Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg5500Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000526209.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435714.1:p.Arg181Trp",
        "hgvsWellDefined": "ENSP00000435714.1:p.Arg181Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658680278",
      "coordinates": [
        {
          "allele": "T",
          "end": 16498,
          "referenceAllele": "C",
          "start": 16497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.16498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg5500Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg5500Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17792,
          "referenceAllele": "C",
          "start": 17791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.16498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg5500Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg5500Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17801,
          "referenceAllele": "C",
          "start": 17800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.16507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg5503Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg5503Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17788,
          "referenceAllele": "C",
          "start": 17787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.16495C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg5499Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg5499Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17856,
          "referenceAllele": "C",
          "start": 17855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.16555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg5519Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg5519Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17853,
          "referenceAllele": "C",
          "start": 17852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.16552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg5518Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg5518Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17846,
          "referenceAllele": "C",
          "start": 17845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.16546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg5516Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg5516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17843,
          "referenceAllele": "C",
          "start": 17842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.16543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg5515Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg5515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17836,
          "referenceAllele": "C",
          "start": 17835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.16534C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg5512Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg5512Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17793,
          "referenceAllele": "C",
          "start": 17792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.16489C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Arg5497Trp",
        "hgvsWellDefined": "XP_011537077.1:p.Arg5497Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17763,
          "referenceAllele": "C",
          "start": 17762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.16462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg5488Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg5488Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17777,
          "referenceAllele": "C",
          "start": 17776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.16498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg5500Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg5500Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17787,
          "referenceAllele": "C",
          "start": 17786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.16507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg5503Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg5503Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17774,
          "referenceAllele": "C",
          "start": 17773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.16495C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg5499Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg5499Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17837,
          "referenceAllele": "C",
          "start": 17836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.16555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg5519Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg5519Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17834,
          "referenceAllele": "C",
          "start": 17833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.16552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg5518Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg5518Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17828,
          "referenceAllele": "C",
          "start": 17827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.16546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg5516Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg5516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17825,
          "referenceAllele": "C",
          "start": 17824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.16543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg5515Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg5515Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17817,
          "referenceAllele": "C",
          "start": 17816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.16534C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg5512Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg5512Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17744,
          "referenceAllele": "C",
          "start": 17743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.16462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg5488Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg5488Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16675,
          "referenceAllele": "C",
          "start": 16674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.16675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658680278",
      "coordinates": [
        {
          "allele": "T",
          "end": 17717,
          "referenceAllele": "C",
          "start": 17716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.16498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg5500Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg5500Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.16498C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.16498C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg5500Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg5500Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}