{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172861",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101972[alleleid]",
        "alleleId": 101972,
        "preferredName": "NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96078",
        "RCV": [
          "RCV000146951",
          "RCV000723554",
          "RCV003231151",
          "RCV003162516"
        ],
        "variationId": 96078
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176721966-C-G",
        "id": "5-176721966-C-G",
        "variant": "5:176721966 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176721966C>G?assembly=hg19",
        "id": "chr5:g.176721966C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177294965C>G?assembly=hg38",
        "id": "chr5:g.177294965C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124386",
        "rs": 398124386
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176721966-C-G?dataset=gnomad_r2_1",
        "id": "5-176721966-C-G",
        "variant": "5:176721966 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294965-C-G?dataset=gnomad_r3",
        "id": "5-177294965-C-G",
        "variant": "5:177294965 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294965-C-G?dataset=gnomad_r4",
        "id": "5-177294965-C-G",
        "variant": "5:177294965 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 177294965,
          "referenceAllele": "C",
          "start": 177294964
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177294965C>G",
        "CM000667.2:g.177294965C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176721966,
          "referenceAllele": "C",
          "start": 176721965
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176721966C>G",
        "CM000667.1:g.176721966C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176654572,
          "referenceAllele": "C",
          "start": 176654571
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176654572C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166887,
          "referenceAllele": "C",
          "start": 166886
        }
      ],
      "hgvs": [
        "NG_009821.1:g.166887C>G",
        "LRG_512:g.166887C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6979,
          "referenceAllele": "C",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Leu2242Val",
        "hgvsWellDefined": "ENSP00000423372.3:p.Leu2242Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6891,
          "referenceAllele": "C",
          "start": 6890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Leu2242Val",
        "hgvsWellDefined": "ENSP00000343209.5:p.Leu2242Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6950,
          "referenceAllele": "C",
          "start": 6949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Leu2242Val",
        "hgvsWellDefined": "ENSP00000346111.5:p.Leu2242Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2534,
          "referenceAllele": "C",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.2239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Leu747Val",
        "hgvsWellDefined": "ENSP00000424024.2:p.Leu747Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.2239C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Leu747Val",
        "hgvsWellDefined": "ENSP00000425120.2:p.Leu747Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7180,
          "referenceAllele": "C",
          "start": 7179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.7180C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "C",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686385.1:n.2013C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6909,
          "referenceAllele": "C",
          "start": 6908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Leu2242Val",
        "hgvsWellDefined": "ENSP00000510020.1:p.Leu2242Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7306,
          "referenceAllele": "C",
          "start": 7305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.7288C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Leu2430Val",
        "hgvsWellDefined": "ENSP00000508426.1:p.Leu2430Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6994,
          "referenceAllele": "C",
          "start": 6993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.6994C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6927,
          "referenceAllele": "C",
          "start": 6926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.6724C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Leu2242Val",
        "hgvsWellDefined": "ENSP00000509711.1:p.Leu2242Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7794,
          "referenceAllele": "C",
          "start": 7793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Leu2533Val",
        "hgvsWellDefined": "ENSP00000395929.2:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.7597C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.7597C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Leu2533Val"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Leu2533Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6891,
          "referenceAllele": "C",
          "start": 6890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Leu2264Val",
        "hgvsWellDefined": "ENSP00000343209.4:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6950,
          "referenceAllele": "C",
          "start": 6949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Leu2264Val",
        "hgvsWellDefined": "ENSP00000346111.4:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7642,
          "referenceAllele": "C",
          "start": 7641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Leu2533Val",
        "hgvsWellDefined": "ENSP00000395929.2:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172863",
      "coordinates": [
        {
          "allele": "G",
          "end": 7735,
          "referenceAllele": "C",
          "start": 7734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.7597C>G",
        "LRG_512t1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Leu2533Val",
        "hgvsWellDefined": "NP_071900.2:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6950,
          "referenceAllele": "C",
          "start": 6949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Leu2264Val",
        "hgvsWellDefined": "NP_758859.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7744,
          "referenceAllele": "C",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_005266016.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6891,
          "referenceAllele": "C",
          "start": 6890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Leu2264Val",
        "hgvsWellDefined": "XP_005266017.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6909,
          "referenceAllele": "C",
          "start": 6908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Leu2264Val",
        "hgvsWellDefined": "XP_005266018.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3251,
          "referenceAllele": "C",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.3091C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Leu1031Val",
        "hgvsWellDefined": "XP_005266019.1:p.Leu1031Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7666,
          "referenceAllele": "C",
          "start": 7665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_011532912.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7637,
          "referenceAllele": "C",
          "start": 7636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_011532913.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7380,
          "referenceAllele": "C",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.7177C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Leu2393Val",
        "hgvsWellDefined": "XP_011532914.1:p.Leu2393Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6732,
          "referenceAllele": "C",
          "start": 6731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.6541C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Leu2181Val",
        "hgvsWellDefined": "XP_011532915.1:p.Leu2181Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3494,
          "referenceAllele": "C",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Leu1111Val",
        "hgvsWellDefined": "XP_011532919.1:p.Leu1111Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6891,
          "referenceAllele": "C",
          "start": 6890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Leu2264Val",
        "hgvsWellDefined": "NP_001352613.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7744,
          "referenceAllele": "C",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_024301918.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7719,
          "referenceAllele": "C",
          "start": 7718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_024301919.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7673,
          "referenceAllele": "C",
          "start": 7672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_024301920.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8368,
          "referenceAllele": "C",
          "start": 8367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Leu2533Val",
        "hgvsWellDefined": "XP_024301921.1:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7385,
          "referenceAllele": "C",
          "start": 7384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.7177C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Leu2393Val",
        "hgvsWellDefined": "XP_024301922.1:p.Leu2393Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7083,
          "referenceAllele": "C",
          "start": 7082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Leu2264Val",
        "hgvsWellDefined": "XP_024301923.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6930,
          "referenceAllele": "C",
          "start": 6929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Leu2264Val",
        "hgvsWellDefined": "XP_024301924.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6974,
          "referenceAllele": "C",
          "start": 6973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Leu2264Val",
        "hgvsWellDefined": "XP_024301926.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6768,
          "referenceAllele": "C",
          "start": 6767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.6541C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Leu2181Val",
        "hgvsWellDefined": "XP_024301927.1:p.Leu2181Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6445,
          "referenceAllele": "C",
          "start": 6444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Leu1111Val",
        "hgvsWellDefined": "XP_024301930.1:p.Leu1111Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.3091C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Leu1031Val",
        "hgvsWellDefined": "XP_024301931.1:p.Leu1031Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172863",
      "coordinates": [
        {
          "allele": "G",
          "end": 7794,
          "referenceAllele": "C",
          "start": 7793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.7597C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Leu2533Val",
        "hgvsWellDefined": "NP_071900.2:p.Leu2533Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.7597C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.7597C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Leu2533Val"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Leu2533Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7014,
          "referenceAllele": "C",
          "start": 7013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.6790C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Leu2264Val",
        "hgvsWellDefined": "NP_758859.1:p.Leu2264Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}