{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3577075",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.1363A>G (p.Met455Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1516214[alleleid]",
        "alleleId": 1516214,
        "preferredName": "NM_022455.5(NSD1):c.1363A>G (p.Met455Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1520220",
        "RCV": [
          "RCV003232520"
        ],
        "variationId": 1520220
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176636763-A-G",
        "id": "5-176636763-A-G",
        "variant": "5:176636763 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176636763A>G?assembly=hg19",
        "id": "chr5:g.176636763A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177209762A>G?assembly=hg38",
        "id": "chr5:g.177209762A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/546116718",
        "rs": 546116718
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176636763-A-G?dataset=gnomad_r2_1",
        "id": "5-176636763-A-G",
        "variant": "5:176636763 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177209762-A-G?dataset=gnomad_r3",
        "id": "5-177209762-A-G",
        "variant": "5:177209762 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177209762-A-G?dataset=gnomad_r4",
        "id": "5-177209762-A-G",
        "variant": "5:177209762 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 177209762,
          "referenceAllele": "A",
          "start": 177209761
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177209762A>G",
        "CM000667.2:g.177209762A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176636763,
          "referenceAllele": "A",
          "start": 176636762
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176636763A>G",
        "CM000667.1:g.176636763A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 176569369,
          "referenceAllele": "A",
          "start": 176569368
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176569369A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81684,
          "referenceAllele": "A",
          "start": 81683
        }
      ],
      "hgvs": [
        "NG_009821.1:g.81684A>G",
        "LRG_512:g.81684A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "referenceAllele": "A",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Met164Val",
        "hgvsWellDefined": "ENSP00000423372.3:p.Met164Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Met164Val",
        "hgvsWellDefined": "ENSP00000343209.5:p.Met164Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Met164Val",
        "hgvsWellDefined": "ENSP00000346111.5:p.Met164Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "referenceAllele": "A",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.6:c.490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.2:p.Met164Val",
        "hgvsWellDefined": "ENSP00000423372.2:p.Met164Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 5470,
          "referenceAllele": "A",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.612+5470A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.3:c.307A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.3:p.Met103Val",
        "hgvsWellDefined": "ENSP00000492679.3:p.Met103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000644863.2:c.307A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496157.2:p.Met103Val",
        "hgvsWellDefined": "ENSP00000496157.2:p.Met103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "A",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.946A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Met164Val",
        "hgvsWellDefined": "ENSP00000510020.1:p.Met164Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "A",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.1054A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Met352Val",
        "hgvsWellDefined": "ENSP00000508426.1:p.Met352Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "referenceAllele": "A",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.760A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1565,
          "referenceAllele": "A",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Met455Val",
        "hgvsWellDefined": "ENSP00000509594.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Met164Val",
        "hgvsWellDefined": "ENSP00000509711.1:p.Met164Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.1510A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1560,
          "referenceAllele": "A",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Met455Val",
        "hgvsWellDefined": "ENSP00000395929.2:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.1363A>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.1363A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Met455Val"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Met455Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.2:c.*456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.2:n.*456A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000644863.1:c.*672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496157.1:n.*672A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Met186Val",
        "hgvsWellDefined": "ENSP00000343209.4:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Met186Val",
        "hgvsWellDefined": "ENSP00000346111.4:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "A",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Met455Val",
        "hgvsWellDefined": "ENSP00000395929.2:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282574",
      "coordinates": [
        {
          "allele": "G",
          "end": 1501,
          "referenceAllele": "A",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.1363A>G",
        "LRG_512t1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Met455Val",
        "hgvsWellDefined": "NP_071900.2:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Met186Val",
        "hgvsWellDefined": "NP_758859.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Met455Val",
        "hgvsWellDefined": "XP_005266016.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Met186Val",
        "hgvsWellDefined": "XP_005266017.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Met186Val",
        "hgvsWellDefined": "XP_005266018.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1432,
          "referenceAllele": "A",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Met455Val",
        "hgvsWellDefined": "XP_011532912.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1403,
          "referenceAllele": "A",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Met455Val",
        "hgvsWellDefined": "XP_011532913.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Met315Val",
        "hgvsWellDefined": "XP_011532914.1:p.Met315Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.307A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Met103Val",
        "hgvsWellDefined": "XP_011532915.1:p.Met103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "referenceAllele": "A",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Met455Val",
        "hgvsWellDefined": "XP_011532916.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "referenceAllele": "A",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Met455Val",
        "hgvsWellDefined": "XP_011532917.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "A",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Met455Val",
        "hgvsWellDefined": "XP_011532918.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Met186Val",
        "hgvsWellDefined": "NP_001352613.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Met455Val",
        "hgvsWellDefined": "XP_024301918.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1485,
          "referenceAllele": "A",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Met455Val",
        "hgvsWellDefined": "XP_024301919.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Met455Val",
        "hgvsWellDefined": "XP_024301920.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Met455Val",
        "hgvsWellDefined": "XP_024301921.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Met315Val",
        "hgvsWellDefined": "XP_024301922.1:p.Met315Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Met186Val",
        "hgvsWellDefined": "XP_024301923.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "A",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Met186Val",
        "hgvsWellDefined": "XP_024301924.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "A",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Met186Val",
        "hgvsWellDefined": "XP_024301926.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "A",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.307A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Met103Val",
        "hgvsWellDefined": "XP_024301927.1:p.Met103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "A",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Met455Val",
        "hgvsWellDefined": "XP_024301928.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "A",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Met455Val",
        "hgvsWellDefined": "XP_024301929.1:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "referenceAllele": "A",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.-2633A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:n.-2633A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282574",
      "coordinates": [
        {
          "allele": "G",
          "end": 1560,
          "referenceAllele": "A",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.1363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Met455Val",
        "hgvsWellDefined": "NP_071900.2:p.Met455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.1363A>G"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.1363A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Met455Val"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Met455Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "referenceAllele": "A",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Met186Val",
        "hgvsWellDefined": "NP_758859.1:p.Met186Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}