{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294954",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168219[alleleid]",
        "alleleId": 168219,
        "preferredName": "NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159367",
        "RCV": [
          "RCV003231267"
        ],
        "variationId": 159367
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176696718A>C?assembly=hg19",
        "id": "chr5:g.176696718A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177269717A>C?assembly=hg38",
        "id": "chr5:g.177269717A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587784146",
        "rs": 587784146
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 177269717,
          "referenceAllele": "A",
          "start": 177269716
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177269717A>C",
        "CM000667.2:g.177269717A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 176696718,
          "referenceAllele": "A",
          "start": 176696717
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176696718A>C",
        "CM000667.1:g.176696718A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 176629324,
          "referenceAllele": "A",
          "start": 176629323
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176629324A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141639,
          "referenceAllele": "A",
          "start": 141638
        }
      ],
      "hgvs": [
        "NG_009821.1:g.141639A>C",
        "LRG_512:g.141639A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4801,
          "referenceAllele": "A",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.4546A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Thr1516Pro",
        "hgvsWellDefined": "ENSP00000423372.3:p.Thr1516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4713,
          "referenceAllele": "A",
          "start": 4712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.4546A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Thr1516Pro",
        "hgvsWellDefined": "ENSP00000343209.5:p.Thr1516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4772,
          "referenceAllele": "A",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.4546A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Thr1516Pro",
        "hgvsWellDefined": "ENSP00000346111.5:p.Thr1516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.61A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Thr21Pro",
        "hgvsWellDefined": "ENSP00000424024.2:p.Thr21Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "referenceAllele": "A",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.61A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Thr21Pro",
        "hgvsWellDefined": "ENSP00000425120.2:p.Thr21Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5002,
          "referenceAllele": "A",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.5002A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4731,
          "referenceAllele": "A",
          "start": 4730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.4546A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Thr1516Pro",
        "hgvsWellDefined": "ENSP00000510020.1:p.Thr1516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 1999,
          "referenceAllele": "A",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687095.1:n.258+1999A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5128,
          "referenceAllele": "A",
          "start": 5127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.5110A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Thr1704Pro",
        "hgvsWellDefined": "ENSP00000508426.1:p.Thr1704Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4816,
          "referenceAllele": "A",
          "start": 4815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.4816A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4749,
          "referenceAllele": "A",
          "start": 4748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.4546A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Thr1516Pro",
        "hgvsWellDefined": "ENSP00000509711.1:p.Thr1516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5566,
          "referenceAllele": "A",
          "start": 5565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.5566A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2338,
          "referenceAllele": "A",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000692024.1:n.2338A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5616,
          "referenceAllele": "A",
          "start": 5615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Thr1807Pro",
        "hgvsWellDefined": "ENSP00000395929.2:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5419A>C"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5419A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Thr1807Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Thr1807Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4713,
          "referenceAllele": "A",
          "start": 4712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Thr1538Pro",
        "hgvsWellDefined": "ENSP00000343209.4:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4772,
          "referenceAllele": "A",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Thr1538Pro",
        "hgvsWellDefined": "ENSP00000346111.4:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5464,
          "referenceAllele": "A",
          "start": 5463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Thr1807Pro",
        "hgvsWellDefined": "ENSP00000395929.2:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.5:c.61A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.1:p.Thr21Pro",
        "hgvsWellDefined": "ENSP00000424024.1:p.Thr21Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "referenceAllele": "A",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.5:c.61A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.1:p.Thr21Pro",
        "hgvsWellDefined": "ENSP00000425120.1:p.Thr21Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "A",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000515735.1:c.61A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423048.1:p.Thr21Pro",
        "hgvsWellDefined": "ENSP00000423048.1:p.Thr21Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294956",
      "coordinates": [
        {
          "allele": "C",
          "end": 5557,
          "referenceAllele": "A",
          "start": 5556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.5419A>C",
        "LRG_512t1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Thr1807Pro",
        "hgvsWellDefined": "NP_071900.2:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4772,
          "referenceAllele": "A",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Thr1538Pro",
        "hgvsWellDefined": "NP_758859.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5566,
          "referenceAllele": "A",
          "start": 5565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_005266016.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4713,
          "referenceAllele": "A",
          "start": 4712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Thr1538Pro",
        "hgvsWellDefined": "XP_005266017.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4731,
          "referenceAllele": "A",
          "start": 4730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Thr1538Pro",
        "hgvsWellDefined": "XP_005266018.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.913A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Thr305Pro",
        "hgvsWellDefined": "XP_005266019.1:p.Thr305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5488,
          "referenceAllele": "A",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_011532912.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5459,
          "referenceAllele": "A",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_011532913.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5202,
          "referenceAllele": "A",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.4999A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Thr1667Pro",
        "hgvsWellDefined": "XP_011532914.1:p.Thr1667Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4554,
          "referenceAllele": "A",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.4363A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Thr1455Pro",
        "hgvsWellDefined": "XP_011532915.1:p.Thr1455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "A",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.1153A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Thr385Pro",
        "hgvsWellDefined": "XP_011532919.1:p.Thr385Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4713,
          "referenceAllele": "A",
          "start": 4712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Thr1538Pro",
        "hgvsWellDefined": "NP_001352613.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5566,
          "referenceAllele": "A",
          "start": 5565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_024301918.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5541,
          "referenceAllele": "A",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_024301919.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5495,
          "referenceAllele": "A",
          "start": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_024301920.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6190,
          "referenceAllele": "A",
          "start": 6189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Thr1807Pro",
        "hgvsWellDefined": "XP_024301921.1:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5207,
          "referenceAllele": "A",
          "start": 5206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.4999A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Thr1667Pro",
        "hgvsWellDefined": "XP_024301922.1:p.Thr1667Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4905,
          "referenceAllele": "A",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Thr1538Pro",
        "hgvsWellDefined": "XP_024301923.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4752,
          "referenceAllele": "A",
          "start": 4751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Thr1538Pro",
        "hgvsWellDefined": "XP_024301924.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4796,
          "referenceAllele": "A",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Thr1538Pro",
        "hgvsWellDefined": "XP_024301926.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4590,
          "referenceAllele": "A",
          "start": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.4363A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Thr1455Pro",
        "hgvsWellDefined": "XP_024301927.1:p.Thr1455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4267,
          "referenceAllele": "A",
          "start": 4266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.1153A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Thr385Pro",
        "hgvsWellDefined": "XP_024301930.1:p.Thr385Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1077,
          "referenceAllele": "A",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.913A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Thr305Pro",
        "hgvsWellDefined": "XP_024301931.1:p.Thr305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294956",
      "coordinates": [
        {
          "allele": "C",
          "end": 5616,
          "referenceAllele": "A",
          "start": 5615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.5419A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Thr1807Pro",
        "hgvsWellDefined": "NP_071900.2:p.Thr1807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5419A>C"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5419A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Thr1807Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Thr1807Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4836,
          "referenceAllele": "A",
          "start": 4835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.4612A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Thr1538Pro",
        "hgvsWellDefined": "NP_758859.1:p.Thr1538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}