{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3578050",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1357972[alleleid]",
        "alleleId": 1357972,
        "preferredName": "NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1413949",
        "RCV": [
          "RCV003232464"
        ],
        "variationId": 1413949
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176721214-C-G",
        "id": "5-176721214-C-G",
        "variant": "5:176721214 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176721214C>G?assembly=hg19",
        "id": "chr5:g.176721214C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177294213C>G?assembly=hg38",
        "id": "chr5:g.177294213C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539453877",
        "rs": 539453877
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176721214-C-G?dataset=gnomad_r2_1",
        "id": "5-176721214-C-G",
        "variant": "5:176721214 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294213-C-G?dataset=gnomad_r3",
        "id": "5-177294213-C-G",
        "variant": "5:177294213 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294213-C-G?dataset=gnomad_r4",
        "id": "5-177294213-C-G",
        "variant": "5:177294213 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 177294213,
          "referenceAllele": "C",
          "start": 177294212
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177294213C>G",
        "CM000667.2:g.177294213C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176721214,
          "referenceAllele": "C",
          "start": 176721213
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176721214C>G",
        "CM000667.1:g.176721214C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176653820,
          "referenceAllele": "C",
          "start": 176653819
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176653820C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166135,
          "referenceAllele": "C",
          "start": 166134
        }
      ],
      "hgvs": [
        "NG_009821.1:g.166135C>G",
        "LRG_512:g.166135C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6227,
          "referenceAllele": "C",
          "start": 6226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.5972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Pro1991Arg",
        "hgvsWellDefined": "ENSP00000423372.3:p.Pro1991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6139,
          "referenceAllele": "C",
          "start": 6138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.5972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Pro1991Arg",
        "hgvsWellDefined": "ENSP00000343209.5:p.Pro1991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6198,
          "referenceAllele": "C",
          "start": 6197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.5972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Pro1991Arg",
        "hgvsWellDefined": "ENSP00000346111.5:p.Pro1991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.1487C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Pro496Arg",
        "hgvsWellDefined": "ENSP00000424024.2:p.Pro496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.1487C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Pro496Arg",
        "hgvsWellDefined": "ENSP00000425120.2:p.Pro496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6428,
          "referenceAllele": "C",
          "start": 6427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.6428C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686385.1:n.1261C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6157,
          "referenceAllele": "C",
          "start": 6156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.5972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Pro1991Arg",
        "hgvsWellDefined": "ENSP00000510020.1:p.Pro1991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6554,
          "referenceAllele": "C",
          "start": 6553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.6536C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Pro2179Arg",
        "hgvsWellDefined": "ENSP00000508426.1:p.Pro2179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6242,
          "referenceAllele": "C",
          "start": 6241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.6242C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6175,
          "referenceAllele": "C",
          "start": 6174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.5972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Pro1991Arg",
        "hgvsWellDefined": "ENSP00000509711.1:p.Pro1991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7042,
          "referenceAllele": "C",
          "start": 7041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Pro2282Arg",
        "hgvsWellDefined": "ENSP00000395929.2:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.6845C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.6845C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Pro2282Arg"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Pro2282Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6139,
          "referenceAllele": "C",
          "start": 6138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Pro2013Arg",
        "hgvsWellDefined": "ENSP00000343209.4:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6198,
          "referenceAllele": "C",
          "start": 6197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Pro2013Arg",
        "hgvsWellDefined": "ENSP00000346111.4:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6890,
          "referenceAllele": "C",
          "start": 6889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Pro2282Arg",
        "hgvsWellDefined": "ENSP00000395929.2:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282715",
      "coordinates": [
        {
          "allele": "G",
          "end": 6983,
          "referenceAllele": "C",
          "start": 6982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.6845C>G",
        "LRG_512t1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Pro2282Arg",
        "hgvsWellDefined": "NP_071900.2:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6198,
          "referenceAllele": "C",
          "start": 6197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Pro2013Arg",
        "hgvsWellDefined": "NP_758859.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6992,
          "referenceAllele": "C",
          "start": 6991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_005266016.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6139,
          "referenceAllele": "C",
          "start": 6138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Pro2013Arg",
        "hgvsWellDefined": "XP_005266017.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6157,
          "referenceAllele": "C",
          "start": 6156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Pro2013Arg",
        "hgvsWellDefined": "XP_005266018.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.2339C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Pro780Arg",
        "hgvsWellDefined": "XP_005266019.1:p.Pro780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6914,
          "referenceAllele": "C",
          "start": 6913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_011532912.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6885,
          "referenceAllele": "C",
          "start": 6884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_011532913.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6628,
          "referenceAllele": "C",
          "start": 6627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.6425C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Pro2142Arg",
        "hgvsWellDefined": "XP_011532914.1:p.Pro2142Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5980,
          "referenceAllele": "C",
          "start": 5979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.5789C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Pro1930Arg",
        "hgvsWellDefined": "XP_011532915.1:p.Pro1930Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2742,
          "referenceAllele": "C",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.2579C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Pro860Arg",
        "hgvsWellDefined": "XP_011532919.1:p.Pro860Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6139,
          "referenceAllele": "C",
          "start": 6138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Pro2013Arg",
        "hgvsWellDefined": "NP_001352613.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6992,
          "referenceAllele": "C",
          "start": 6991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_024301918.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6967,
          "referenceAllele": "C",
          "start": 6966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_024301919.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6921,
          "referenceAllele": "C",
          "start": 6920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_024301920.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7616,
          "referenceAllele": "C",
          "start": 7615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Pro2282Arg",
        "hgvsWellDefined": "XP_024301921.1:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6633,
          "referenceAllele": "C",
          "start": 6632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.6425C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Pro2142Arg",
        "hgvsWellDefined": "XP_024301922.1:p.Pro2142Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6331,
          "referenceAllele": "C",
          "start": 6330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Pro2013Arg",
        "hgvsWellDefined": "XP_024301923.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6178,
          "referenceAllele": "C",
          "start": 6177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Pro2013Arg",
        "hgvsWellDefined": "XP_024301924.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6222,
          "referenceAllele": "C",
          "start": 6221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Pro2013Arg",
        "hgvsWellDefined": "XP_024301926.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6016,
          "referenceAllele": "C",
          "start": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.5789C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Pro1930Arg",
        "hgvsWellDefined": "XP_024301927.1:p.Pro1930Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5693,
          "referenceAllele": "C",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.2579C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Pro860Arg",
        "hgvsWellDefined": "XP_024301930.1:p.Pro860Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2503,
          "referenceAllele": "C",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.2339C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Pro780Arg",
        "hgvsWellDefined": "XP_024301931.1:p.Pro780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282715",
      "coordinates": [
        {
          "allele": "G",
          "end": 7042,
          "referenceAllele": "C",
          "start": 7041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.6845C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Pro2282Arg",
        "hgvsWellDefined": "NP_071900.2:p.Pro2282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.6845C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.6845C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Pro2282Arg"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Pro2282Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6262,
          "referenceAllele": "C",
          "start": 6261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.6038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Pro2013Arg",
        "hgvsWellDefined": "NP_758859.1:p.Pro2013Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}