{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA149203",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5020995"
      },
      {
        "active": false,
        "id": "COSM5020996"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101958[alleleid]",
        "alleleId": 101958,
        "preferredName": "NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96064",
        "RCV": [
          "RCV000082129",
          "RCV001795151",
          "RCV002354282",
          "RCV003231142"
        ],
        "variationId": 96064
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176707724-C-G",
        "id": "5-176707724-C-G",
        "variant": "5:176707724 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176707724C>G?assembly=hg19",
        "id": "chr5:g.176707724C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177280723C>G?assembly=hg38",
        "id": "chr5:g.177280723C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61749654",
        "rs": 61749654
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176707724-C-G?dataset=gnomad_r2_1",
        "id": "5-176707724-C-G",
        "variant": "5:176707724 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177280723-C-G?dataset=gnomad_r3",
        "id": "5-177280723-C-G",
        "variant": "5:177280723 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177280723-C-G?dataset=gnomad_r4",
        "id": "5-177280723-C-G",
        "variant": "5:177280723 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 177280723,
          "referenceAllele": "C",
          "start": 177280722
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177280723C>G",
        "CM000667.2:g.177280723C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176707724,
          "referenceAllele": "C",
          "start": 176707723
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176707724C>G",
        "CM000667.1:g.176707724C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176640330,
          "referenceAllele": "C",
          "start": 176640329
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176640330C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 152645,
          "referenceAllele": "C",
          "start": 152644
        }
      ],
      "hgvs": [
        "NG_009821.1:g.152645C>G",
        "LRG_512:g.152645C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5163,
          "referenceAllele": "C",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.4908C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Ala1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5075,
          "referenceAllele": "C",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.4908C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Ala1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5134,
          "referenceAllele": "C",
          "start": 5133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.4908C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Ala1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Ala141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Ala141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5364,
          "referenceAllele": "C",
          "start": 5363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.5364C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5093,
          "referenceAllele": "C",
          "start": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.4908C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Ala1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687095.1:n.530C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5490,
          "referenceAllele": "C",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.5472C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Ala1824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5178,
          "referenceAllele": "C",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.5178C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5111,
          "referenceAllele": "C",
          "start": 5110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.4908C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Ala1636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5928,
          "referenceAllele": "C",
          "start": 5927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.5928C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2700,
          "referenceAllele": "C",
          "start": 2699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000692024.1:n.2700C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5978,
          "referenceAllele": "C",
          "start": 5977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5781C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5781C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ala1927="
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ala1927="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5075,
          "referenceAllele": "C",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5134,
          "referenceAllele": "C",
          "start": 5133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5826,
          "referenceAllele": "C",
          "start": 5825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829999425",
      "coordinates": [
        {
          "allele": "G",
          "end": 5919,
          "referenceAllele": "C",
          "start": 5918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.5781C>G",
        "LRG_512t1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5134,
          "referenceAllele": "C",
          "start": 5133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5928,
          "referenceAllele": "C",
          "start": 5927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5075,
          "referenceAllele": "C",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5093,
          "referenceAllele": "C",
          "start": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.1275C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5850,
          "referenceAllele": "C",
          "start": 5849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5821,
          "referenceAllele": "C",
          "start": 5820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5564,
          "referenceAllele": "C",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.5361C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Ala1787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4916,
          "referenceAllele": "C",
          "start": 4915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.4725C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Ala1575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.1515C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5075,
          "referenceAllele": "C",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5928,
          "referenceAllele": "C",
          "start": 5927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5903,
          "referenceAllele": "C",
          "start": 5902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6552,
          "referenceAllele": "C",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5569,
          "referenceAllele": "C",
          "start": 5568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.5361C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Ala1787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5267,
          "referenceAllele": "C",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5114,
          "referenceAllele": "C",
          "start": 5113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5158,
          "referenceAllele": "C",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4952,
          "referenceAllele": "C",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.4725C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Ala1575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4629,
          "referenceAllele": "C",
          "start": 4628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.1515C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.1275C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829999425",
      "coordinates": [
        {
          "allele": "G",
          "end": 5978,
          "referenceAllele": "C",
          "start": 5977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.5781C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ala1927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5781C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5781C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ala1927="
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ala1927="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5198,
          "referenceAllele": "C",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ala1658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}