{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3578027",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=633789[alleleid]",
        "alleleId": 633789,
        "preferredName": "NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/639340",
        "RCV": [
          "RCV002360911",
          "RCV003232094"
        ],
        "variationId": 639340
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176721049-C-T",
        "id": "5-176721049-C-T",
        "variant": "5:176721049 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176721049C>T?assembly=hg19",
        "id": "chr5:g.176721049C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177294048C>T?assembly=hg38",
        "id": "chr5:g.177294048C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748597598",
        "rs": 748597598
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176721049-C-T?dataset=gnomad_r2_1",
        "id": "5-176721049-C-T",
        "variant": "5:176721049 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294048-C-T?dataset=gnomad_r3",
        "id": "5-177294048-C-T",
        "variant": "5:177294048 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294048-C-T?dataset=gnomad_r4",
        "id": "5-177294048-C-T",
        "variant": "5:177294048 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 177294048,
          "referenceAllele": "C",
          "start": 177294047
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177294048C>T",
        "CM000667.2:g.177294048C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176721049,
          "referenceAllele": "C",
          "start": 176721048
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176721049C>T",
        "CM000667.1:g.176721049C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176653655,
          "referenceAllele": "C",
          "start": 176653654
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176653655C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165970,
          "referenceAllele": "C",
          "start": 165969
        }
      ],
      "hgvs": [
        "NG_009821.1:g.165970C>T",
        "LRG_512:g.165970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6062,
          "referenceAllele": "C",
          "start": 6061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.5807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Pro1936Leu",
        "hgvsWellDefined": "ENSP00000423372.3:p.Pro1936Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5974,
          "referenceAllele": "C",
          "start": 5973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.5807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Pro1936Leu",
        "hgvsWellDefined": "ENSP00000343209.5:p.Pro1936Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6033,
          "referenceAllele": "C",
          "start": 6032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.5807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Pro1936Leu",
        "hgvsWellDefined": "ENSP00000346111.5:p.Pro1936Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.1322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Pro441Leu",
        "hgvsWellDefined": "ENSP00000424024.2:p.Pro441Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.1322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Pro441Leu",
        "hgvsWellDefined": "ENSP00000425120.2:p.Pro441Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6263,
          "referenceAllele": "C",
          "start": 6262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.6263C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686385.1:n.1096C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5992,
          "referenceAllele": "C",
          "start": 5991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.5807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Pro1936Leu",
        "hgvsWellDefined": "ENSP00000510020.1:p.Pro1936Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6389,
          "referenceAllele": "C",
          "start": 6388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.6371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Pro2124Leu",
        "hgvsWellDefined": "ENSP00000508426.1:p.Pro2124Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6077,
          "referenceAllele": "C",
          "start": 6076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.6077C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.5807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Pro1936Leu",
        "hgvsWellDefined": "ENSP00000509711.1:p.Pro1936Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6877,
          "referenceAllele": "C",
          "start": 6876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Pro2227Leu",
        "hgvsWellDefined": "ENSP00000395929.2:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.6680C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.6680C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Pro2227Leu"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Pro2227Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5974,
          "referenceAllele": "C",
          "start": 5973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Pro1958Leu",
        "hgvsWellDefined": "ENSP00000343209.4:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6033,
          "referenceAllele": "C",
          "start": 6032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Pro1958Leu",
        "hgvsWellDefined": "ENSP00000346111.4:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6725,
          "referenceAllele": "C",
          "start": 6724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Pro2227Leu",
        "hgvsWellDefined": "ENSP00000395929.2:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067336",
      "coordinates": [
        {
          "allele": "T",
          "end": 6818,
          "referenceAllele": "C",
          "start": 6817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.6680C>T",
        "LRG_512t1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Pro2227Leu",
        "hgvsWellDefined": "NP_071900.2:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6033,
          "referenceAllele": "C",
          "start": 6032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Pro1958Leu",
        "hgvsWellDefined": "NP_758859.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_005266016.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5974,
          "referenceAllele": "C",
          "start": 5973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Pro1958Leu",
        "hgvsWellDefined": "XP_005266017.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5992,
          "referenceAllele": "C",
          "start": 5991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Pro1958Leu",
        "hgvsWellDefined": "XP_005266018.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2334,
          "referenceAllele": "C",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.2174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Pro725Leu",
        "hgvsWellDefined": "XP_005266019.1:p.Pro725Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6749,
          "referenceAllele": "C",
          "start": 6748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_011532912.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6720,
          "referenceAllele": "C",
          "start": 6719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_011532913.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6463,
          "referenceAllele": "C",
          "start": 6462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.6260C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Pro2087Leu",
        "hgvsWellDefined": "XP_011532914.1:p.Pro2087Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5815,
          "referenceAllele": "C",
          "start": 5814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.5624C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Pro1875Leu",
        "hgvsWellDefined": "XP_011532915.1:p.Pro1875Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.2414C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Pro805Leu",
        "hgvsWellDefined": "XP_011532919.1:p.Pro805Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5974,
          "referenceAllele": "C",
          "start": 5973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Pro1958Leu",
        "hgvsWellDefined": "NP_001352613.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_024301918.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6802,
          "referenceAllele": "C",
          "start": 6801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_024301919.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6756,
          "referenceAllele": "C",
          "start": 6755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_024301920.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7451,
          "referenceAllele": "C",
          "start": 7450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Pro2227Leu",
        "hgvsWellDefined": "XP_024301921.1:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6468,
          "referenceAllele": "C",
          "start": 6467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.6260C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Pro2087Leu",
        "hgvsWellDefined": "XP_024301922.1:p.Pro2087Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6166,
          "referenceAllele": "C",
          "start": 6165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Pro1958Leu",
        "hgvsWellDefined": "XP_024301923.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6013,
          "referenceAllele": "C",
          "start": 6012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Pro1958Leu",
        "hgvsWellDefined": "XP_024301924.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6057,
          "referenceAllele": "C",
          "start": 6056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Pro1958Leu",
        "hgvsWellDefined": "XP_024301926.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5851,
          "referenceAllele": "C",
          "start": 5850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.5624C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Pro1875Leu",
        "hgvsWellDefined": "XP_024301927.1:p.Pro1875Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5528,
          "referenceAllele": "C",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.2414C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Pro805Leu",
        "hgvsWellDefined": "XP_024301930.1:p.Pro805Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.2174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Pro725Leu",
        "hgvsWellDefined": "XP_024301931.1:p.Pro725Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067336",
      "coordinates": [
        {
          "allele": "T",
          "end": 6877,
          "referenceAllele": "C",
          "start": 6876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.6680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Pro2227Leu",
        "hgvsWellDefined": "NP_071900.2:p.Pro2227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.6680C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.6680C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Pro2227Leu"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Pro2227Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6097,
          "referenceAllele": "C",
          "start": 6096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.5873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Pro1958Leu",
        "hgvsWellDefined": "NP_758859.1:p.Pro1958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}