{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271610",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168902[alleleid]",
        "alleleId": 168902,
        "preferredName": "NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158741",
        "RCV": [
          "RCV000146182"
        ],
        "variationId": 158741
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49416064T>A?assembly=hg19",
        "id": "chr12:g.49416064T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49022281T>A?assembly=hg38",
        "id": "chr12:g.49022281T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783700",
        "rs": 587783700
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49022281,
          "referenceAllele": "T",
          "start": 49022280
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49022281T>A",
        "CM000674.2:g.49022281T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49416064,
          "referenceAllele": "T",
          "start": 49416063
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49416064T>A",
        "CM000674.1:g.49416064T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47702331,
          "referenceAllele": "T",
          "start": 47702330
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47702331T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38044,
          "referenceAllele": "A",
          "start": 38043
        }
      ],
      "hgvs": [
        "NG_027827.1:g.38044A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "A",
          "start": 380
        }
      ],
      "hgvs": [
        "ENST00000526209.2:c.381A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000681974.1:n.1083A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "A",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000682693.1:n.2045A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "A",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000682886.1:n.817A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17678,
          "referenceAllele": "A",
          "start": 17677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.16459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Arg5487Trp",
        "hgvsWellDefined": "ENSP00000506726.1:p.Arg5487Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "A",
          "start": 381
        }
      ],
      "hgvs": [
        "ENST00000683988.1:c.382A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506939.1:p.Arg128Trp",
        "hgvsWellDefined": "ENSP00000506939.1:p.Arg128Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000684428.1:c.1004A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507433.1:n.1004A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "A",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685024.1:c.1565A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16420,
          "referenceAllele": "A",
          "start": 16419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.16420A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Arg5474Trp",
        "hgvsWellDefined": "ENSP00000509386.1:p.Arg5474Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000691932.1:c.412A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509037.1:p.Arg138Trp",
        "hgvsWellDefined": "ENSP00000509037.1:p.Arg138Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16408,
          "referenceAllele": "A",
          "start": 16407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.16408A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Arg5470Trp",
        "hgvsWellDefined": "ENSP00000509666.1:p.Arg5470Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17630,
          "referenceAllele": "A",
          "start": 17629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.16411A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg5471Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg5471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.16411A>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.16411A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg5471Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg5471Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16411,
          "referenceAllele": "A",
          "start": 16410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.16411A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg5471Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg5471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "referenceAllele": "A",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000526209.1:c.454A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435714.1:p.Arg152Trp",
        "hgvsWellDefined": "ENSP00000435714.1:p.Arg152Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA271611",
      "coordinates": [
        {
          "allele": "T",
          "end": 16411,
          "referenceAllele": "A",
          "start": 16410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.16411A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg5471Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg5471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17705,
          "referenceAllele": "A",
          "start": 17704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.16411A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg5471Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg5471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17714,
          "referenceAllele": "A",
          "start": 17713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.16420A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg5474Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg5474Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17701,
          "referenceAllele": "A",
          "start": 17700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.16408A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg5470Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg5470Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17769,
          "referenceAllele": "A",
          "start": 17768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.16468A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg5490Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg5490Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17766,
          "referenceAllele": "A",
          "start": 17765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.16465A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg5489Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg5489Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17759,
          "referenceAllele": "A",
          "start": 17758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.16459A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg5487Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg5487Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17756,
          "referenceAllele": "A",
          "start": 17755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.16456A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg5486Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg5486Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17749,
          "referenceAllele": "A",
          "start": 17748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.16447A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg5483Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg5483Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17706,
          "referenceAllele": "A",
          "start": 17705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.16402A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Arg5468Trp",
        "hgvsWellDefined": "XP_011537077.1:p.Arg5468Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17676,
          "referenceAllele": "A",
          "start": 17675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.16375A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg5459Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg5459Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17690,
          "referenceAllele": "A",
          "start": 17689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.16411A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg5471Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg5471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17700,
          "referenceAllele": "A",
          "start": 17699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.16420A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg5474Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg5474Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17687,
          "referenceAllele": "A",
          "start": 17686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.16408A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg5470Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg5470Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17750,
          "referenceAllele": "A",
          "start": 17749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.16468A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg5490Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg5490Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17747,
          "referenceAllele": "A",
          "start": 17746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.16465A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg5489Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg5489Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17741,
          "referenceAllele": "A",
          "start": 17740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.16459A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg5487Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg5487Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17738,
          "referenceAllele": "A",
          "start": 17737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.16456A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg5486Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg5486Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17730,
          "referenceAllele": "A",
          "start": 17729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.16447A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg5483Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg5483Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17657,
          "referenceAllele": "A",
          "start": 17656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.16375A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg5459Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg5459Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16588,
          "referenceAllele": "A",
          "start": 16587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.16588A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA271611",
      "coordinates": [
        {
          "allele": "T",
          "end": 17630,
          "referenceAllele": "A",
          "start": 17629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.16411A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg5471Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg5471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.16411A>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.16411A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg5471Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg5471Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}