{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA479459566",
  "communityStandardTitle": [
    "NM_000289.6(PFKM):c.2004A>C (p.Pro668=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48538825A>C?assembly=hg19",
        "id": "chr12:g.48538825A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48145042,
          "referenceAllele": "A",
          "start": 48145041
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48145042A>C",
        "CM000674.2:g.48145042A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48538825,
          "referenceAllele": "A",
          "start": 48538824
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48538825A>C",
        "CM000674.1:g.48538825A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46825092,
          "referenceAllele": "A",
          "start": 46825091
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46825092A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44170,
          "referenceAllele": "A",
          "start": 44169
        }
      ],
      "hgvs": [
        "NG_016199.1:g.44170A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44790,
          "referenceAllele": "A",
          "start": 44789
        }
      ],
      "hgvs": [
        "NG_016199.2:g.44790A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616216"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "A",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550257.7:c.2226A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447997.3:p.Pro742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.12:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.11:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.2004A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.2004A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Pro668="
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Pro668="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "A",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000549941.7:c.1746A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446829.3:p.Pro582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2293,
          "referenceAllele": "A",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550345.6:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450369.2:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2202,
          "referenceAllele": "A",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550924.6:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446945.2:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2148,
          "referenceAllele": "A",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551339.6:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448253.2:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2457,
          "referenceAllele": "A",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000642730.1:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496597.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "referenceAllele": "A",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000312352.11:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309438.7:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.10:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2193,
          "referenceAllele": "A",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.9:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2328,
          "referenceAllele": "A",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546964.5:n.2328A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2844,
          "referenceAllele": "A",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547581.5:c.*2272A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447992.1:n.*2272A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2132,
          "referenceAllele": "A",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547587.5:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449426.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "A",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551804.5:c.1911A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448177.1:p.Pro637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "A",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000553055.1:c.280A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079895445",
      "coordinates": [
        {
          "allele": "C",
          "end": 2189,
          "referenceAllele": "A",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.5:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2491,
          "referenceAllele": "A",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.1:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "referenceAllele": "A",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2132,
          "referenceAllele": "A",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2388,
          "referenceAllele": "A",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268974.1:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269031.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "referenceAllele": "A",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268975.1:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269032.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.2:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "A",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268977.1:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269034.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2287,
          "referenceAllele": "A",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268978.2:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269035.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "A",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268979.1:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269036.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2229,
          "referenceAllele": "A",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538487.1:c.2220A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536789.1:p.Pro740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2030,
          "referenceAllele": "A",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538488.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536790.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079895445",
      "coordinates": [
        {
          "allele": "C",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.6:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.2004A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.2004A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Pro668="
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Pro668="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.2:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2459,
          "referenceAllele": "A",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354735.1:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341664.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2518,
          "referenceAllele": "A",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354736.1:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341665.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2422,
          "referenceAllele": "A",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354737.1:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341666.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2292,
          "referenceAllele": "A",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354738.1:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341667.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354739.1:c.2217A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341668.1:p.Pro739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2245,
          "referenceAllele": "A",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354740.1:c.2148A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341669.1:p.Pro716="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2275,
          "referenceAllele": "A",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.1:c.2028A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Pro676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "A",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2202,
          "referenceAllele": "A",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2237,
          "referenceAllele": "A",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2427,
          "referenceAllele": "A",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.1:c.1917A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Pro639="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "A",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.1:c.1878A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Pro626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.1:c.1854A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Pro618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2115,
          "referenceAllele": "A",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.1:c.1854A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Pro618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.1:c.1911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Pro637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.1:n.2441A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3077,
          "referenceAllele": "A",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148955.1:n.3077A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2367,
          "referenceAllele": "A",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.1:n.2367A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.1:n.2596A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2344,
          "referenceAllele": "A",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.1:n.2344A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2270,
          "referenceAllele": "A",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.1:n.2270A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2570,
          "referenceAllele": "A",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.3:c.2313A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Pro771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2281,
          "referenceAllele": "A",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_017019469.1:c.2124A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874958.1:p.Pro708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "A",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449020.1:c.2226A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304788.1:p.Pro742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449021.1:c.2103A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304789.1:p.Pro701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449022.1:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304790.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "referenceAllele": "A",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.2:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2132,
          "referenceAllele": "A",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.2:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2175,
          "referenceAllele": "A",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.2:c.2028A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Pro676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2079,
          "referenceAllele": "A",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.2:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.2:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.2:c.2004A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Pro668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2293,
          "referenceAllele": "A",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.2:c.1917A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Pro639="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "A",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.2:c.1878A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Pro626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2005,
          "referenceAllele": "A",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.2:c.1854A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Pro618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "A",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.2:c.1854A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Pro618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1962,
          "referenceAllele": "A",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.2:c.1911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Pro637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2307,
          "referenceAllele": "A",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.2:n.2307A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2233,
          "referenceAllele": "A",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.2:n.2233A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2462,
          "referenceAllele": "A",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.2:n.2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2210,
          "referenceAllele": "A",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.2:n.2210A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "A",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.2:n.2136A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731505"
    }
  ],
  "type": "nucleotide"
}