{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384550919",
  "communityStandardTitle": [
    "NM_000289.6(PFKM):c.1342-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2987932[alleleid]",
        "alleleId": 2987932,
        "preferredName": "NM_000289.6(PFKM):c.1342-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2819577",
        "RCV": [
          "RCV003601670"
        ],
        "variationId": 2819577
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48535093G>C?assembly=hg19",
        "id": "chr12:g.48535093G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48141310G>C?assembly=hg38",
        "id": "chr12:g.48141310G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2498556144",
        "rs": 2498556144
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48141310,
          "referenceAllele": "G",
          "start": 48141309
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48141310G>C",
        "CM000674.2:g.48141310G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48535093,
          "referenceAllele": "G",
          "start": 48535092
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48535093G>C",
        "CM000674.1:g.48535093G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46821360,
          "referenceAllele": "G",
          "start": 46821359
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46821360G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40438,
          "referenceAllele": "G",
          "start": 40437
        }
      ],
      "hgvs": [
        "NG_016199.1:g.40438G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41058,
          "referenceAllele": "G",
          "start": 41057
        }
      ],
      "hgvs": [
        "NG_016199.2:g.41058G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616216"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1687,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1687,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550257.7:c.1564-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447997.3:n.1564-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.12:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1392,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.11:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.1342-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.1342-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:n.1342-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:n.1342-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000549941.7:c.1249-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446829.3:n.1249-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1630,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550345.6:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450369.2:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550924.6:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446945.2:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1485,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1485,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551339.6:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448253.2:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1794,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000642730.1:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496597.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000312352.11:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309438.7:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.10:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.9:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546465.1:c.187-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446519.1:n.187-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1665,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1665,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546964.5:n.1666-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 769,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547148.5:n.770-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547581.5:c.*1610-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447992.1:n.*1610-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1469,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547587.5:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449426.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1399,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551804.5:c.1249-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448177.1:n.1249-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000552752.5:c.491-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1526,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.5:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.1:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1469,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1725,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1725,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268974.1:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269031.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1864,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1864,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268975.1:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269032.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1769,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.2:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1711,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1711,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268977.1:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269034.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1624,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268978.2:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269035.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1711,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1711,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268979.1:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269036.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538487.1:c.1558-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536789.1:n.1558-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1367,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1367,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538488.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536790.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1392,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.6:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.1342-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.1342-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:n.1342-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:n.1342-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.2:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1796,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1796,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354735.1:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341664.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1855,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1855,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354736.1:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341665.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1759,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1759,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354737.1:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341666.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1629,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354738.1:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341667.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1700,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354739.1:c.1555-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341668.1:n.1555-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354740.1:c.1486-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341669.1:n.1486-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1612,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1612,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.1:c.1366-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:n.1366-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1516,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1574,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1574,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1764,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.1:c.1255-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:n.1255-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1400,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.1:c.1216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:n.1216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1442,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.1:c.1192-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:n.1192-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1452,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.1:c.1192-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:n.1192-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1433,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.1:c.1249-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:n.1249-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.1:n.1779-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148955.1:n.2415-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1704,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1704,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.1:n.1705-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1933,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.1:n.1934-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1681,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1681,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.1:n.1682-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1607,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.1:n.1608-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1907,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.3:c.1651-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:n.1651-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1618,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_017019469.1:c.1462-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874958.1:n.1462-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1687,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1687,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449020.1:c.1564-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304788.1:n.1564-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1576,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449021.1:c.1441-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304789.1:n.1441-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1492,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449022.1:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304790.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.2:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1469,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.2:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1512,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.2:c.1366-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:n.1366-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1416,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.2:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1679,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.2:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1440,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.2:c.1342-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:n.1342-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1630,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.2:c.1255-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:n.1255-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1266,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.2:c.1216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:n.1216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1342,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.2:c.1192-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:n.1192-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1318,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.2:c.1192-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:n.1192-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.2:c.1249-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:n.1249-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1644,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.2:n.1645-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1570,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1570,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.2:n.1571-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1799,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1799,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.2:n.1800-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1547,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.2:n.1548-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1473,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.2:n.1474-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731505"
    }
  ],
  "type": "nucleotide"
}