{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410206771",
  "communityStandardTitle": [
    "NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1413952"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6413915",
        "active": true,
        "id": "COSM6413915"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939105[alleleid]",
        "alleleId": 939105,
        "preferredName": "NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/935114",
        "RCV": [
          "RCV001203631"
        ],
        "variationId": 935114
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36206764G>A?assembly=hg19",
        "id": "chr21:g.36206764G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34834467G>A?assembly=hg38",
        "id": "chr21:g.34834467G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1296210151",
        "rs": 1296210151
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34834467-G-A?dataset=gnomad_r3",
        "id": "21-34834467-G-A",
        "variant": "21:34834467 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34834467-G-A?dataset=gnomad_r4",
        "id": "21-34834467-G-A",
        "variant": "21:34834467 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 34834467,
          "referenceAllele": "G",
          "start": 34834466
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34834467G>A",
        "CM000683.2:g.34834467G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 36206764,
          "referenceAllele": "G",
          "start": 36206763
        }
      ],
      "hgvs": [
        "NC_000021.8:g.36206764G>A",
        "CM000683.1:g.36206764G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 35128634,
          "referenceAllele": "G",
          "start": 35128633
        }
      ],
      "hgvs": [
        "NC_000021.7:g.35128634G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155245,
          "referenceAllele": "C",
          "start": 1155244
        }
      ],
      "hgvs": [
        "NG_011402.2:g.1155245C>T",
        "LRG_482:g.1155245C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001708"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000675419.1:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501943.1:p.Arg250Cys",
        "hgvsWellDefined": "ENSP00000501943.1:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.748C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.748C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Arg250Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Arg250Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000300305.7:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300305.3:p.Arg250Cys",
        "hgvsWellDefined": "ENSP00000300305.3:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000344691.8:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340690.4:p.Arg223Cys",
        "hgvsWellDefined": "ENSP00000340690.4:p.Arg223Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000358356.9:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351123.5:p.Arg223Cys",
        "hgvsWellDefined": "ENSP00000351123.5:p.Arg223Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000399237.6:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382182.2:p.Arg238Cys",
        "hgvsWellDefined": "ENSP00000382182.2:p.Arg238Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "endIntronDirection": "+",
          "endIntronOffset": 25007,
          "referenceAllele": "C",
          "start": 603,
          "startIntronDirection": "+",
          "startIntronOffset": 25006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000399240.5:c.532+25007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382184.1:n.532+25007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000437180.5:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409227.1:p.Arg250Cys",
        "hgvsWellDefined": "ENSP00000409227.1:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000469087.1:n.284C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000482318.5:c.*338C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477067.1:n.*338C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825237543",
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.2:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Arg223Cys",
        "hgvsWellDefined": "NP_001001890.1:p.Arg223Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825582190",
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001122607.1:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116079.1:p.Arg223Cys",
        "hgvsWellDefined": "NP_001116079.1:p.Arg223Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139706046",
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.4:c.748C>T",
        "LRG_482t1:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Arg250Cys",
        "hgvsWellDefined": "NP_001745.2:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261068.3:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261125.1:p.Arg238Cys",
        "hgvsWellDefined": "XP_005261125.1:p.Arg238Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "endIntronDirection": "+",
          "endIntronOffset": 25007,
          "referenceAllele": "C",
          "start": 792,
          "startIntronDirection": "+",
          "startIntronOffset": 25006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.3:c.613+25007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:n.613+25007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.1:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Arg250Cys",
        "hgvsWellDefined": "XP_011528068.1:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.1:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Arg237Cys",
        "hgvsWellDefined": "XP_011528069.1:p.Arg237Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 25007,
          "referenceAllele": "C",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 25006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.1:c.574+25007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:n.574+25007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529770.1:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528072.1:p.Arg250Cys",
        "hgvsWellDefined": "XP_011528072.1:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XR_937576.1:n.927C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "endIntronDirection": "+",
          "endIntronOffset": 25007,
          "referenceAllele": "C",
          "start": 839,
          "startIntronDirection": "+",
          "startIntronOffset": 25006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.4:c.613+25007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:n.613+25007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.2:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Arg250Cys",
        "hgvsWellDefined": "XP_011528068.1:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.2:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Arg237Cys",
        "hgvsWellDefined": "XP_011528069.1:p.Arg237Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 25007,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 25006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.2:c.574+25007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:n.574+25007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529770.2:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528072.1:p.Arg250Cys",
        "hgvsWellDefined": "XP_011528072.1:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_017028487.1:c.595C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883976.1:p.Arg199Cys",
        "hgvsWellDefined": "XP_016883976.1:p.Arg199Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XR_937576.2:n.974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825237543",
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.3:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Arg223Cys",
        "hgvsWellDefined": "NP_001001890.1:p.Arg223Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825582190",
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001122607.2:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116079.1:p.Arg223Cys",
        "hgvsWellDefined": "NP_001116079.1:p.Arg223Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139706046",
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.5:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Arg250Cys",
        "hgvsWellDefined": "NP_001745.2:p.Arg250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.748C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.748C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Arg250Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Arg250Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}