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Items: 1 to 20 of 866

1.

rs1490256304 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    12:48141321 (GRCh38)
    12:48535104 (GRCh37)
    Canonical SPDI:
    NC_000012.12:48141320:C:A
    Gene:
    PFKM (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.48141321C>A, NC_000012.11:g.48535104C>A, NG_016199.2:g.41069C>A, NM_000289.6:c.1352C>A, NM_000289.5:c.1352C>A, NR_148957.2:n.1810C>A, NR_148957.1:n.1944C>A, NM_001166686.2:c.1565C>A, NM_001166686.1:c.1565C>A, NM_001354743.2:c.1352C>A, NM_001354743.1:c.1352C>A, NR_148954.2:n.1655C>A, NR_148954.1:n.1789C>A, NM_001354745.2:c.1265C>A, NM_001354745.1:c.1265C>A, NR_148956.2:n.1581C>A, NR_148956.1:n.1715C>A, NR_148958.2:n.1558C>A, NR_148958.1:n.1692C>A, NM_001354741.2:c.1376C>A, NM_001354741.1:c.1376C>A, NR_148959.2:n.1484C>A, NR_148959.1:n.1618C>A, NM_001166688.2:c.1352C>A, NM_001166688.1:c.1352C>A, NM_001354744.2:c.1352C>A, NM_001354744.1:c.1352C>A, NM_001354742.2:c.1352C>A, NM_001354742.1:c.1352C>A, NM_001166687.2:c.1352C>A, NM_001166687.1:c.1352C>A, NM_001354747.2:c.1202C>A, NM_001354747.1:c.1202C>A, NM_001354748.2:c.1202C>A, NM_001354748.1:c.1202C>A, NM_001363619.2:c.1259C>A, NM_001363619.1:c.1259C>A, NM_001354746.2:c.1226C>A, NM_001354746.1:c.1226C>A, NR_148955.1:n.2425C>A, NM_001354736.1:c.1661C>A, NM_001354735.1:c.1661C>A, NM_001354737.1:c.1565C>A, NM_001354739.1:c.1565C>A, NM_001354738.1:c.1565C>A, NM_001354740.1:c.1496C>A, XM_005268976.4:c.1661C>A, XM_005268976.3:c.1661C>A, XM_005268976.2:c.1661C>A, XM_005268976.1:c.1661C>A, XM_011538487.2:c.1778C>A, XM_011538487.1:c.1568C>A, XM_005268974.2:c.1661C>A, XM_005268974.1:c.1661C>A, XM_024449020.2:c.1574C>A, XM_024449020.1:c.1574C>A, XM_017019469.2:c.1472C>A, XM_017019469.1:c.1472C>A, XM_024449021.2:c.1451C>A, XM_024449021.1:c.1451C>A, XM_024449022.2:c.1352C>A, XM_024449022.1:c.1352C>A, XM_047428999.1:c.1871C>A, XM_047429000.1:c.1775C>A, XM_047429001.1:c.1670C>A, XM_047429002.1:c.1481C>A, XM_047429003.1:c.1403C>A, XM_047429004.1:c.1358C>A, NP_000280.1:p.Ala451Asp, NP_001160158.1:p.Ala522Asp, NP_001341672.1:p.Ala451Asp, NP_001341674.1:p.Ala422Asp, NP_001341670.1:p.Ala459Asp, NP_001160160.1:p.Ala451Asp, NP_001341673.1:p.Ala451Asp, NP_001341671.1:p.Ala451Asp, NP_001160159.1:p.Ala451Asp, NP_001341676.1:p.Ala401Asp, NP_001341677.1:p.Ala401Asp, NP_001350548.1:p.Ala420Asp, NP_001341675.1:p.Ala409Asp, NP_001341665.1:p.Ala554Asp, NP_001341664.1:p.Ala554Asp, NP_001341666.1:p.Ala522Asp, NP_001341668.1:p.Ala522Asp, NP_001341667.1:p.Ala522Asp, NP_001341669.1:p.Ala499Asp, XP_005269033.1:p.Ala554Asp, XP_011536789.2:p.Ala593Asp, XP_005269031.1:p.Ala554Asp, XP_024304788.1:p.Ala525Asp, XP_016874958.1:p.Ala491Asp, XP_024304789.1:p.Ala484Asp, XP_024304790.1:p.Ala451Asp, XP_047284955.1:p.Ala624Asp, XP_047284956.1:p.Ala592Asp, XP_047284957.1:p.Ala557Asp, XP_047284958.1:p.Ala494Asp, XP_047284959.1:p.Ala468Asp, XP_047284960.1:p.Ala453Asp
    2.

    rs1489813507 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:48145803 (GRCh38)
      12:48539586 (GRCh37)
      Canonical SPDI:
      NC_000012.12:48145802:T:C
      Gene:
      PFKM (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.48145803T>C, NC_000012.11:g.48539586T>C, NG_016199.2:g.45551T>C, NM_000289.6:c.*95T>C, NM_000289.5:c.*95T>C, NR_148957.2:n.2896T>C, NR_148957.1:n.3030T>C, NM_001166686.2:c.*95T>C, NM_001166686.1:c.*95T>C, NM_001354743.2:c.*95T>C, NM_001354743.1:c.*95T>C, NR_148954.2:n.2741T>C, NR_148954.1:n.2875T>C, NM_001354745.2:c.*95T>C, NM_001354745.1:c.*95T>C, NR_148956.2:n.2667T>C, NR_148956.1:n.2801T>C, NR_148958.2:n.2644T>C, NR_148958.1:n.2778T>C, NM_001354741.2:c.*95T>C, NM_001354741.1:c.*95T>C, NR_148959.2:n.2570T>C, NR_148959.1:n.2704T>C, NM_001166688.2:c.*95T>C, NM_001166688.1:c.*95T>C, NM_001354744.2:c.*95T>C, NM_001354744.1:c.*95T>C, NM_001354742.2:c.*95T>C, NM_001354742.1:c.*95T>C, NM_001166687.2:c.*95T>C, NM_001166687.1:c.*95T>C, NM_001354747.2:c.*95T>C, NM_001354747.1:c.*95T>C, NM_001354748.2:c.*95T>C, NM_001354748.1:c.*95T>C, NM_001363619.2:c.*95T>C, NM_001363619.1:c.*95T>C, NM_001354746.2:c.*95T>C, NM_001354746.1:c.*95T>C, NR_148955.1:n.3511T>C, NM_001354736.1:c.*95T>C, NM_001354735.1:c.*95T>C, NM_001354737.1:c.*95T>C, NM_001354739.1:c.*95T>C, NM_001354738.1:c.*95T>C, NM_001354740.1:c.*95T>C, XM_005268976.4:c.*95T>C, XM_005268976.3:c.*95T>C, XM_005268976.2:c.*95T>C, XM_005268976.1:c.*95T>C, XM_011538487.2:c.*95T>C, XM_011538487.1:c.*95T>C, XM_005268974.2:c.*95T>C, XM_005268974.1:c.*95T>C, XM_024449020.2:c.*95T>C, XM_024449020.1:c.*95T>C, XM_017019469.2:c.*95T>C, XM_017019469.1:c.*95T>C, XM_024449021.2:c.*95T>C, XM_024449021.1:c.*95T>C, XM_024449022.2:c.*95T>C, XM_024449022.1:c.*95T>C, XM_047428999.1:c.*95T>C, XM_047429000.1:c.*95T>C, XM_047429001.1:c.*95T>C, XM_047429002.1:c.*95T>C, XM_047429003.1:c.*95T>C, XM_047429004.1:c.*95T>C
      3.

      rs1489733816 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        12:48133318 (GRCh38)
        12:48527101 (GRCh37)
        Canonical SPDI:
        NC_000012.12:48133317:A:C
        Gene:
        PFKM (Varview), MIR6505 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000028/1 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        NC_000012.12:g.48133318A>C, NC_000012.11:g.48527101A>C, NG_016199.2:g.33066A>C, NM_000289.6:c.431A>C, NM_000289.5:c.431A>C, NR_148957.2:n.482A>C, NR_148957.1:n.616A>C, NM_001166686.2:c.644A>C, NM_001166686.1:c.644A>C, NM_001354743.2:c.431A>C, NM_001354743.1:c.431A>C, NR_148954.2:n.482A>C, NR_148954.1:n.616A>C, NM_001354745.2:c.344A>C, NM_001354745.1:c.344A>C, NR_148956.2:n.408A>C, NR_148956.1:n.542A>C, NR_148958.2:n.482A>C, NR_148958.1:n.616A>C, NM_001354741.2:c.455A>C, NM_001354741.1:c.455A>C, NR_148959.2:n.408A>C, NR_148959.1:n.542A>C, NM_001166688.2:c.431A>C, NM_001166688.1:c.431A>C, NM_001354744.2:c.431A>C, NM_001354744.1:c.431A>C, NM_001354742.2:c.431A>C, NM_001354742.1:c.431A>C, NM_001166687.2:c.431A>C, NM_001166687.1:c.431A>C, NM_001354747.2:c.281A>C, NM_001354747.1:c.281A>C, NM_001354748.2:c.281A>C, NM_001354748.1:c.281A>C, NM_001363619.2:c.431A>C, NM_001363619.1:c.431A>C, NM_001354746.2:c.431A>C, NM_001354746.1:c.431A>C, NR_148955.1:n.1252A>C, NM_001354736.1:c.740A>C, NM_001354735.1:c.740A>C, NM_001354737.1:c.644A>C, NM_001354739.1:c.644A>C, NM_001354738.1:c.644A>C, NM_001354740.1:c.575A>C, XM_005268976.4:c.740A>C, XM_005268976.3:c.740A>C, XM_005268976.2:c.740A>C, XM_005268976.1:c.740A>C, XM_011538487.2:c.950A>C, XM_011538487.1:c.740A>C, XM_005268974.2:c.740A>C, XM_005268974.1:c.740A>C, XM_024449020.2:c.653A>C, XM_024449020.1:c.653A>C, XM_017019469.2:c.644A>C, XM_017019469.1:c.644A>C, XM_024449021.2:c.530A>C, XM_024449021.1:c.530A>C, XM_024449022.2:c.431A>C, XM_024449022.1:c.431A>C, XM_047428999.1:c.950A>C, XM_047429000.1:c.854A>C, XM_047429001.1:c.749A>C, XM_047429002.1:c.653A>C, XM_047429003.1:c.575A>C, XM_047429004.1:c.530A>C, NP_000280.1:p.Lys144Thr, NP_001160158.1:p.Lys215Thr, NP_001341672.1:p.Lys144Thr, NP_001341674.1:p.Lys115Thr, NP_001341670.1:p.Lys152Thr, NP_001160160.1:p.Lys144Thr, NP_001341673.1:p.Lys144Thr, NP_001341671.1:p.Lys144Thr, NP_001160159.1:p.Lys144Thr, NP_001341676.1:p.Lys94Thr, NP_001341677.1:p.Lys94Thr, NP_001350548.1:p.Lys144Thr, NP_001341675.1:p.Lys144Thr, NP_001341665.1:p.Lys247Thr, NP_001341664.1:p.Lys247Thr, NP_001341666.1:p.Lys215Thr, NP_001341668.1:p.Lys215Thr, NP_001341667.1:p.Lys215Thr, NP_001341669.1:p.Lys192Thr, XP_005269033.1:p.Lys247Thr, XP_011536789.2:p.Lys317Thr, XP_005269031.1:p.Lys247Thr, XP_024304788.1:p.Lys218Thr, XP_016874958.1:p.Lys215Thr, XP_024304789.1:p.Lys177Thr, XP_024304790.1:p.Lys144Thr, XP_047284955.1:p.Lys317Thr, XP_047284956.1:p.Lys285Thr, XP_047284957.1:p.Lys250Thr, XP_047284958.1:p.Lys218Thr, XP_047284959.1:p.Lys192Thr, XP_047284960.1:p.Lys177Thr
        4.

        rs1489568698 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:48145066 (GRCh38)
          12:48538849 (GRCh37)
          Canonical SPDI:
          NC_000012.12:48145065:C:A
          Gene:
          PFKM (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.48145066C>A, NC_000012.11:g.48538849C>A, NG_016199.2:g.44814C>A, NM_000289.6:c.2028C>A, NM_000289.5:c.2028C>A, NR_148957.2:n.2486C>A, NR_148957.1:n.2620C>A, NM_001166686.2:c.2241C>A, NM_001166686.1:c.2241C>A, NM_001354743.2:c.2028C>A, NM_001354743.1:c.2028C>A, NR_148954.2:n.2331C>A, NR_148954.1:n.2465C>A, NM_001354745.2:c.1941C>A, NM_001354745.1:c.1941C>A, NR_148956.2:n.2257C>A, NR_148956.1:n.2391C>A, NR_148958.2:n.2234C>A, NR_148958.1:n.2368C>A, NM_001354741.2:c.2052C>A, NM_001354741.1:c.2052C>A, NR_148959.2:n.2160C>A, NR_148959.1:n.2294C>A, NM_001166688.2:c.2028C>A, NM_001166688.1:c.2028C>A, NM_001354744.2:c.2028C>A, NM_001354744.1:c.2028C>A, NM_001354742.2:c.2028C>A, NM_001354742.1:c.2028C>A, NM_001166687.2:c.2028C>A, NM_001166687.1:c.2028C>A, NM_001354747.2:c.1878C>A, NM_001354747.1:c.1878C>A, NM_001354748.2:c.1878C>A, NM_001354748.1:c.1878C>A, NM_001363619.2:c.1935C>A, NM_001363619.1:c.1935C>A, NM_001354746.2:c.1902C>A, NM_001354746.1:c.1902C>A, NR_148955.1:n.3101C>A, NM_001354736.1:c.2337C>A, NM_001354735.1:c.2337C>A, NM_001354737.1:c.2241C>A, NM_001354739.1:c.2241C>A, NM_001354738.1:c.2241C>A, NM_001354740.1:c.2172C>A, XM_005268976.4:c.2337C>A, XM_005268976.3:c.2337C>A, XM_005268976.2:c.2337C>A, XM_005268976.1:c.2337C>A, XM_011538487.2:c.2454C>A, XM_011538487.1:c.2244C>A, XM_005268974.2:c.2337C>A, XM_005268974.1:c.2337C>A, XM_024449020.2:c.2250C>A, XM_024449020.1:c.2250C>A, XM_017019469.2:c.2148C>A, XM_017019469.1:c.2148C>A, XM_024449021.2:c.2127C>A, XM_024449021.1:c.2127C>A, XM_024449022.2:c.2028C>A, XM_024449022.1:c.2028C>A, XM_047428999.1:c.2547C>A, XM_047429000.1:c.2451C>A, XM_047429001.1:c.2346C>A, XM_047429002.1:c.2157C>A, XM_047429003.1:c.2079C>A, XM_047429004.1:c.2034C>A
          5.

          rs1488017373 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:48146237 (GRCh38)
            12:48540020 (GRCh37)
            Canonical SPDI:
            NC_000012.12:48146236:T:C
            Gene:
            PFKM (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.48146237T>C, NC_000012.11:g.48540020T>C, NG_016199.2:g.45985T>C, NM_000289.6:c.*529T>C, NM_000289.5:c.*529T>C, NR_148957.2:n.3330T>C, NR_148957.1:n.3464T>C, NM_001166686.2:c.*529T>C, NM_001166686.1:c.*529T>C, NM_001354743.2:c.*529T>C, NM_001354743.1:c.*529T>C, NR_148954.2:n.3175T>C, NR_148954.1:n.3309T>C, NM_001354745.2:c.*529T>C, NM_001354745.1:c.*529T>C, NR_148956.2:n.3101T>C, NR_148956.1:n.3235T>C, NR_148958.2:n.3078T>C, NR_148958.1:n.3212T>C, NM_001354741.2:c.*529T>C, NM_001354741.1:c.*529T>C, NR_148959.2:n.3004T>C, NR_148959.1:n.3138T>C, NM_001166688.2:c.*529T>C, NM_001166688.1:c.*529T>C, NM_001354744.2:c.*529T>C, NM_001354744.1:c.*529T>C, NM_001354742.2:c.*529T>C, NM_001354742.1:c.*529T>C, NM_001166687.2:c.*529T>C, NM_001166687.1:c.*529T>C, NM_001354747.2:c.*529T>C, NM_001354747.1:c.*529T>C, NM_001354748.2:c.*529T>C, NM_001354748.1:c.*529T>C, NM_001363619.2:c.*529T>C, NM_001363619.1:c.*529T>C, NM_001354746.2:c.*529T>C, NM_001354746.1:c.*529T>C, NR_148955.1:n.3945T>C, NM_001354736.1:c.*529T>C, NM_001354735.1:c.*529T>C, NM_001354737.1:c.*529T>C, NM_001354739.1:c.*529T>C, NM_001354738.1:c.*529T>C, NM_001354740.1:c.*529T>C, XM_005268976.4:c.*529T>C, XM_011538487.2:c.*529T>C, XM_005268974.2:c.*529T>C, XM_024449020.2:c.*529T>C, XM_017019469.2:c.*529T>C, XM_024449021.2:c.*529T>C, XM_024449022.2:c.*529T>C, XM_047428999.1:c.*529T>C, XM_047429000.1:c.*529T>C, XM_047429001.1:c.*529T>C, XM_047429002.1:c.*529T>C, XM_047429003.1:c.*529T>C, XM_047429004.1:c.*529T>C
            6.

            rs1487607332 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:48141953 (GRCh38)
              12:48535736 (GRCh37)
              Canonical SPDI:
              NC_000012.12:48141952:C:A
              Gene:
              PFKM (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.48141953C>A, NC_000012.11:g.48535736C>A, NG_016199.2:g.41701C>A, NM_000289.6:c.1540C>A, NM_000289.5:c.1540C>A, NR_148957.2:n.1998C>A, NR_148957.1:n.2132C>A, NM_001166686.2:c.1753C>A, NM_001166686.1:c.1753C>A, NM_001354743.2:c.1540C>A, NM_001354743.1:c.1540C>A, NR_148954.2:n.1843C>A, NR_148954.1:n.1977C>A, NM_001354745.2:c.1453C>A, NM_001354745.1:c.1453C>A, NR_148956.2:n.1769C>A, NR_148956.1:n.1903C>A, NR_148958.2:n.1746C>A, NR_148958.1:n.1880C>A, NM_001354741.2:c.1564C>A, NM_001354741.1:c.1564C>A, NR_148959.2:n.1672C>A, NR_148959.1:n.1806C>A, NM_001166688.2:c.1540C>A, NM_001166688.1:c.1540C>A, NM_001354744.2:c.1540C>A, NM_001354744.1:c.1540C>A, NM_001354742.2:c.1540C>A, NM_001354742.1:c.1540C>A, NM_001166687.2:c.1540C>A, NM_001166687.1:c.1540C>A, NM_001354747.2:c.1390C>A, NM_001354747.1:c.1390C>A, NM_001354748.2:c.1390C>A, NM_001354748.1:c.1390C>A, NM_001363619.2:c.1447C>A, NM_001363619.1:c.1447C>A, NM_001354746.2:c.1414C>A, NM_001354746.1:c.1414C>A, NR_148955.1:n.2613C>A, NM_001354736.1:c.1849C>A, NM_001354735.1:c.1849C>A, NM_001354737.1:c.1753C>A, NM_001354739.1:c.1753C>A, NM_001354738.1:c.1753C>A, NM_001354740.1:c.1684C>A, XM_005268976.4:c.1849C>A, XM_005268976.3:c.1849C>A, XM_005268976.2:c.1849C>A, XM_005268976.1:c.1849C>A, XM_011538487.2:c.1966C>A, XM_011538487.1:c.1756C>A, XM_005268974.2:c.1849C>A, XM_005268974.1:c.1849C>A, XM_024449020.2:c.1762C>A, XM_024449020.1:c.1762C>A, XM_017019469.2:c.1660C>A, XM_017019469.1:c.1660C>A, XM_024449021.2:c.1639C>A, XM_024449021.1:c.1639C>A, XM_024449022.2:c.1540C>A, XM_024449022.1:c.1540C>A, XM_047428999.1:c.2059C>A, XM_047429000.1:c.1963C>A, XM_047429001.1:c.1858C>A, XM_047429002.1:c.1669C>A, XM_047429003.1:c.1591C>A, XM_047429004.1:c.1546C>A, NP_000280.1:p.Gln514Lys, NP_001160158.1:p.Gln585Lys, NP_001341672.1:p.Gln514Lys, NP_001341674.1:p.Gln485Lys, NP_001341670.1:p.Gln522Lys, NP_001160160.1:p.Gln514Lys, NP_001341673.1:p.Gln514Lys, NP_001341671.1:p.Gln514Lys, NP_001160159.1:p.Gln514Lys, NP_001341676.1:p.Gln464Lys, NP_001341677.1:p.Gln464Lys, NP_001350548.1:p.Gln483Lys, NP_001341675.1:p.Gln472Lys, NP_001341665.1:p.Gln617Lys, NP_001341664.1:p.Gln617Lys, NP_001341666.1:p.Gln585Lys, NP_001341668.1:p.Gln585Lys, NP_001341667.1:p.Gln585Lys, NP_001341669.1:p.Gln562Lys, XP_005269033.1:p.Gln617Lys, XP_011536789.2:p.Gln656Lys, XP_005269031.1:p.Gln617Lys, XP_024304788.1:p.Gln588Lys, XP_016874958.1:p.Gln554Lys, XP_024304789.1:p.Gln547Lys, XP_024304790.1:p.Gln514Lys, XP_047284955.1:p.Gln687Lys, XP_047284956.1:p.Gln655Lys, XP_047284957.1:p.Gln620Lys, XP_047284958.1:p.Gln557Lys, XP_047284959.1:p.Gln531Lys, XP_047284960.1:p.Gln516Lys
              7.
              8.

              rs1484318591 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                12:48132896 (GRCh38)
                12:48526679 (GRCh37)
                Canonical SPDI:
                NC_000012.12:48132895:G:A,NC_000012.12:48132895:G:C
                Gene:
                PFKM (Varview), MIR6505 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.48132896G>A, NC_000012.12:g.48132896G>C, NC_000012.11:g.48526679G>A, NC_000012.11:g.48526679G>C, NG_016199.2:g.32644G>A, NG_016199.2:g.32644G>C, NM_000289.6:c.266G>A, NM_000289.6:c.266G>C, NM_000289.5:c.266G>A, NM_000289.5:c.266G>C, NR_148957.2:n.317G>A, NR_148957.2:n.317G>C, NR_148957.1:n.451G>A, NR_148957.1:n.451G>C, NM_001166686.2:c.479G>A, NM_001166686.2:c.479G>C, NM_001166686.1:c.479G>A, NM_001166686.1:c.479G>C, NM_001354743.2:c.266G>A, NM_001354743.2:c.266G>C, NM_001354743.1:c.266G>A, NM_001354743.1:c.266G>C, NR_148954.2:n.317G>A, NR_148954.2:n.317G>C, NR_148954.1:n.451G>A, NR_148954.1:n.451G>C, NM_001354745.2:c.179G>A, NM_001354745.2:c.179G>C, NM_001354745.1:c.179G>A, NM_001354745.1:c.179G>C, NR_148956.2:n.243G>A, NR_148956.2:n.243G>C, NR_148956.1:n.377G>A, NR_148956.1:n.377G>C, NR_148958.2:n.317G>A, NR_148958.2:n.317G>C, NR_148958.1:n.451G>A, NR_148958.1:n.451G>C, NM_001354741.2:c.290G>A, NM_001354741.2:c.290G>C, NM_001354741.1:c.290G>A, NM_001354741.1:c.290G>C, NR_148959.2:n.243G>A, NR_148959.2:n.243G>C, NR_148959.1:n.377G>A, NR_148959.1:n.377G>C, NM_001166688.2:c.266G>A, NM_001166688.2:c.266G>C, NM_001166688.1:c.266G>A, NM_001166688.1:c.266G>C, NM_001354744.2:c.266G>A, NM_001354744.2:c.266G>C, NM_001354744.1:c.266G>A, NM_001354744.1:c.266G>C, NM_001354742.2:c.266G>A, NM_001354742.2:c.266G>C, NM_001354742.1:c.266G>A, NM_001354742.1:c.266G>C, NM_001166687.2:c.266G>A, NM_001166687.2:c.266G>C, NM_001166687.1:c.266G>A, NM_001166687.1:c.266G>C, NM_001354747.2:c.116G>A, NM_001354747.2:c.116G>C, NM_001354747.1:c.116G>A, NM_001354747.1:c.116G>C, NM_001354748.2:c.116G>A, NM_001354748.2:c.116G>C, NM_001354748.1:c.116G>A, NM_001354748.1:c.116G>C, NM_001363619.2:c.266G>A, NM_001363619.2:c.266G>C, NM_001363619.1:c.266G>A, NM_001363619.1:c.266G>C, NM_001354746.2:c.266G>A, NM_001354746.2:c.266G>C, NM_001354746.1:c.266G>A, NM_001354746.1:c.266G>C, NR_148955.1:n.1087G>A, NR_148955.1:n.1087G>C, NM_001354736.1:c.575G>A, NM_001354736.1:c.575G>C, NM_001354735.1:c.575G>A, NM_001354735.1:c.575G>C, NM_001354737.1:c.479G>A, NM_001354737.1:c.479G>C, NM_001354739.1:c.479G>A, NM_001354739.1:c.479G>C, NM_001354738.1:c.479G>A, NM_001354738.1:c.479G>C, NM_001354740.1:c.410G>A, NM_001354740.1:c.410G>C, XM_005268976.4:c.575G>A, XM_005268976.4:c.575G>C, XM_005268976.3:c.575G>A, XM_005268976.3:c.575G>C, XM_005268976.2:c.575G>A, XM_005268976.2:c.575G>C, XM_005268976.1:c.575G>A, XM_005268976.1:c.575G>C, XM_011538487.2:c.785G>A, XM_011538487.2:c.785G>C, XM_011538487.1:c.575G>A, XM_011538487.1:c.575G>C, XM_005268974.2:c.575G>A, XM_005268974.2:c.575G>C, XM_005268974.1:c.575G>A, XM_005268974.1:c.575G>C, XM_024449020.2:c.488G>A, XM_024449020.2:c.488G>C, XM_024449020.1:c.488G>A, XM_024449020.1:c.488G>C, XM_017019469.2:c.479G>A, XM_017019469.2:c.479G>C, XM_017019469.1:c.479G>A, XM_017019469.1:c.479G>C, XM_024449021.2:c.365G>A, XM_024449021.2:c.365G>C, XM_024449021.1:c.365G>A, XM_024449021.1:c.365G>C, XM_024449022.2:c.266G>A, XM_024449022.2:c.266G>C, XM_024449022.1:c.266G>A, XM_024449022.1:c.266G>C, XM_047428999.1:c.785G>A, XM_047428999.1:c.785G>C, XM_047429000.1:c.689G>A, XM_047429000.1:c.689G>C, XM_047429001.1:c.584G>A, XM_047429001.1:c.584G>C, XM_047429002.1:c.488G>A, XM_047429002.1:c.488G>C, XM_047429003.1:c.410G>A, XM_047429003.1:c.410G>C, XM_047429004.1:c.365G>A, XM_047429004.1:c.365G>C, NP_000280.1:p.Cys89Tyr, NP_000280.1:p.Cys89Ser, NP_001160158.1:p.Cys160Tyr, NP_001160158.1:p.Cys160Ser, NP_001341672.1:p.Cys89Tyr, NP_001341672.1:p.Cys89Ser, NP_001341674.1:p.Cys60Tyr, NP_001341674.1:p.Cys60Ser, NP_001341670.1:p.Cys97Tyr, NP_001341670.1:p.Cys97Ser, NP_001160160.1:p.Cys89Tyr, NP_001160160.1:p.Cys89Ser, NP_001341673.1:p.Cys89Tyr, NP_001341673.1:p.Cys89Ser, NP_001341671.1:p.Cys89Tyr, NP_001341671.1:p.Cys89Ser, NP_001160159.1:p.Cys89Tyr, NP_001160159.1:p.Cys89Ser, NP_001341676.1:p.Cys39Tyr, NP_001341676.1:p.Cys39Ser, NP_001341677.1:p.Cys39Tyr, NP_001341677.1:p.Cys39Ser, NP_001350548.1:p.Cys89Tyr, NP_001350548.1:p.Cys89Ser, NP_001341675.1:p.Cys89Tyr, NP_001341675.1:p.Cys89Ser, NP_001341665.1:p.Cys192Tyr, NP_001341665.1:p.Cys192Ser, NP_001341664.1:p.Cys192Tyr, NP_001341664.1:p.Cys192Ser, NP_001341666.1:p.Cys160Tyr, NP_001341666.1:p.Cys160Ser, NP_001341668.1:p.Cys160Tyr, NP_001341668.1:p.Cys160Ser, NP_001341667.1:p.Cys160Tyr, NP_001341667.1:p.Cys160Ser, NP_001341669.1:p.Cys137Tyr, NP_001341669.1:p.Cys137Ser, XP_005269033.1:p.Cys192Tyr, XP_005269033.1:p.Cys192Ser, XP_011536789.2:p.Cys262Tyr, XP_011536789.2:p.Cys262Ser, XP_005269031.1:p.Cys192Tyr, XP_005269031.1:p.Cys192Ser, XP_024304788.1:p.Cys163Tyr, XP_024304788.1:p.Cys163Ser, XP_016874958.1:p.Cys160Tyr, XP_016874958.1:p.Cys160Ser, XP_024304789.1:p.Cys122Tyr, XP_024304789.1:p.Cys122Ser, XP_024304790.1:p.Cys89Tyr, XP_024304790.1:p.Cys89Ser, XP_047284955.1:p.Cys262Tyr, XP_047284955.1:p.Cys262Ser, XP_047284956.1:p.Cys230Tyr, XP_047284956.1:p.Cys230Ser, XP_047284957.1:p.Cys195Tyr, XP_047284957.1:p.Cys195Ser, XP_047284958.1:p.Cys163Tyr, XP_047284958.1:p.Cys163Ser, XP_047284959.1:p.Cys137Tyr, XP_047284959.1:p.Cys137Ser, XP_047284960.1:p.Cys122Tyr, XP_047284960.1:p.Cys122Ser
                9.

                rs1484313686 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  12:48141977 (GRCh38)
                  12:48535760 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:48141976:T:G
                  Gene:
                  PFKM (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000012.12:g.48141977T>G, NC_000012.11:g.48535760T>G, NG_016199.2:g.41725T>G, NM_000289.6:c.1564T>G, NM_000289.5:c.1564T>G, NR_148957.2:n.2022T>G, NR_148957.1:n.2156T>G, NM_001166686.2:c.1777T>G, NM_001166686.1:c.1777T>G, NM_001354743.2:c.1564T>G, NM_001354743.1:c.1564T>G, NR_148954.2:n.1867T>G, NR_148954.1:n.2001T>G, NM_001354745.2:c.1477T>G, NM_001354745.1:c.1477T>G, NR_148956.2:n.1793T>G, NR_148956.1:n.1927T>G, NR_148958.2:n.1770T>G, NR_148958.1:n.1904T>G, NM_001354741.2:c.1588T>G, NM_001354741.1:c.1588T>G, NR_148959.2:n.1696T>G, NR_148959.1:n.1830T>G, NM_001166688.2:c.1564T>G, NM_001166688.1:c.1564T>G, NM_001354744.2:c.1564T>G, NM_001354744.1:c.1564T>G, NM_001354742.2:c.1564T>G, NM_001354742.1:c.1564T>G, NM_001166687.2:c.1564T>G, NM_001166687.1:c.1564T>G, NM_001354747.2:c.1414T>G, NM_001354747.1:c.1414T>G, NM_001354748.2:c.1414T>G, NM_001354748.1:c.1414T>G, NM_001363619.2:c.1471T>G, NM_001363619.1:c.1471T>G, NM_001354746.2:c.1438T>G, NM_001354746.1:c.1438T>G, NR_148955.1:n.2637T>G, NM_001354736.1:c.1873T>G, NM_001354735.1:c.1873T>G, NM_001354737.1:c.1777T>G, NM_001354739.1:c.1777T>G, NM_001354738.1:c.1777T>G, NM_001354740.1:c.1708T>G, XM_005268976.4:c.1873T>G, XM_005268976.3:c.1873T>G, XM_005268976.2:c.1873T>G, XM_005268976.1:c.1873T>G, XM_011538487.2:c.1990T>G, XM_011538487.1:c.1780T>G, XM_005268974.2:c.1873T>G, XM_005268974.1:c.1873T>G, XM_024449020.2:c.1786T>G, XM_024449020.1:c.1786T>G, XM_017019469.2:c.1684T>G, XM_017019469.1:c.1684T>G, XM_024449021.2:c.1663T>G, XM_024449021.1:c.1663T>G, XM_024449022.2:c.1564T>G, XM_024449022.1:c.1564T>G, XM_047428999.1:c.2083T>G, XM_047429000.1:c.1987T>G, XM_047429001.1:c.1882T>G, XM_047429002.1:c.1693T>G, XM_047429003.1:c.1615T>G, XM_047429004.1:c.1570T>G, NP_000280.1:p.Phe522Val, NP_001160158.1:p.Phe593Val, NP_001341672.1:p.Phe522Val, NP_001341674.1:p.Phe493Val, NP_001341670.1:p.Phe530Val, NP_001160160.1:p.Phe522Val, NP_001341673.1:p.Phe522Val, NP_001341671.1:p.Phe522Val, NP_001160159.1:p.Phe522Val, NP_001341676.1:p.Phe472Val, NP_001341677.1:p.Phe472Val, NP_001350548.1:p.Phe491Val, NP_001341675.1:p.Phe480Val, NP_001341665.1:p.Phe625Val, NP_001341664.1:p.Phe625Val, NP_001341666.1:p.Phe593Val, NP_001341668.1:p.Phe593Val, NP_001341667.1:p.Phe593Val, NP_001341669.1:p.Phe570Val, XP_005269033.1:p.Phe625Val, XP_011536789.2:p.Phe664Val, XP_005269031.1:p.Phe625Val, XP_024304788.1:p.Phe596Val, XP_016874958.1:p.Phe562Val, XP_024304789.1:p.Phe555Val, XP_024304790.1:p.Phe522Val, XP_047284955.1:p.Phe695Val, XP_047284956.1:p.Phe663Val, XP_047284957.1:p.Phe628Val, XP_047284958.1:p.Phe565Val, XP_047284959.1:p.Phe539Val, XP_047284960.1:p.Phe524Val
                  10.

                  rs1484124352 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    12:48106132 (GRCh38)
                    12:48499915 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:48106131:C:A,NC_000012.12:48106131:C:T
                    Gene:
                    PFKM (Varview), SENP1 (Varview)
                    Functional Consequence:
                    intron_variant,5_prime_UTR_variant,2KB_upstream_variant,stop_gained,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.48106132C>A, NC_000012.12:g.48106132C>T, NC_000012.11:g.48499915C>A, NC_000012.11:g.48499915C>T, NG_016199.2:g.5880C>A, NG_016199.2:g.5880C>T, NM_001166686.2:c.-15C>A, NM_001166686.2:c.-15C>T, NM_001166686.1:c.-15C>A, NM_001166686.1:c.-15C>T, NR_148955.1:n.260C>A, NR_148955.1:n.260C>T, NM_001354736.1:c.-189C>A, NM_001354736.1:c.-189C>T, NM_001354735.1:c.-130C>A, NM_001354735.1:c.-130C>T, NM_001354737.1:c.-189C>A, NM_001354737.1:c.-189C>T, NM_001354739.1:c.-130C>A, NM_001354739.1:c.-130C>T, NM_001354738.1:c.-59C>A, NM_001354738.1:c.-59C>T, XM_005268976.4:c.-15C>A, XM_005268976.4:c.-15C>T, XM_005268976.3:c.-15C>A, XM_005268976.3:c.-15C>T, XM_005268976.2:c.-15C>A, XM_005268976.2:c.-15C>T, XM_005268976.1:c.-15C>A, XM_005268976.1:c.-15C>T, XM_005268974.2:c.-59C>A, XM_005268974.2:c.-59C>T, XM_005268974.1:c.-59C>A, XM_005268974.1:c.-59C>T, XM_024449020.2:c.86C>A, XM_024449020.2:c.86C>T, XM_024449020.1:c.86C>A, XM_024449020.1:c.86C>T, XM_017019469.2:c.-189C>A, XM_017019469.2:c.-189C>T, XM_024449021.2:c.86C>A, XM_024449021.2:c.86C>T, XM_024449021.1:c.86C>A, XM_024449021.1:c.86C>T, NM_001267594.1:c.-149G>T, NM_001267594.1:c.-149G>A, XM_047429001.1:c.86C>A, XM_047429001.1:c.86C>T, XM_047429002.1:c.86C>A, XM_047429002.1:c.86C>T, XM_047429004.1:c.86C>A, XM_047429004.1:c.86C>T, XP_024304788.1:p.Ser29Ter, XP_024304788.1:p.Ser29Leu, XP_024304789.1:p.Ser29Ter, XP_024304789.1:p.Ser29Leu, XP_047284957.1:p.Ser29Ter, XP_047284957.1:p.Ser29Leu, XP_047284958.1:p.Ser29Ter, XP_047284958.1:p.Ser29Leu, XP_047284960.1:p.Ser29Ter, XP_047284960.1:p.Ser29Leu
                    11.

                    rs1483626060 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:48133400 (GRCh38)
                      12:48527183 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:48133399:C:T
                      Gene:
                      PFKM (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000111/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.48133400C>T, NC_000012.11:g.48527183C>T, NG_016199.2:g.33148C>T, NM_000289.6:c.513C>T, NM_000289.5:c.513C>T, NR_148957.2:n.564C>T, NR_148957.1:n.698C>T, NM_001166686.2:c.726C>T, NM_001166686.1:c.726C>T, NM_001354743.2:c.513C>T, NM_001354743.1:c.513C>T, NR_148954.2:n.564C>T, NR_148954.1:n.698C>T, NM_001354745.2:c.426C>T, NM_001354745.1:c.426C>T, NR_148956.2:n.490C>T, NR_148956.1:n.624C>T, NR_148958.2:n.564C>T, NR_148958.1:n.698C>T, NM_001354741.2:c.537C>T, NM_001354741.1:c.537C>T, NR_148959.2:n.490C>T, NR_148959.1:n.624C>T, NM_001166688.2:c.513C>T, NM_001166688.1:c.513C>T, NM_001354744.2:c.513C>T, NM_001354744.1:c.513C>T, NM_001354742.2:c.513C>T, NM_001354742.1:c.513C>T, NM_001166687.2:c.513C>T, NM_001166687.1:c.513C>T, NM_001354747.2:c.363C>T, NM_001354747.1:c.363C>T, NM_001354748.2:c.363C>T, NM_001354748.1:c.363C>T, NM_001363619.2:c.513C>T, NM_001363619.1:c.513C>T, NM_001354746.2:c.513C>T, NM_001354746.1:c.513C>T, NR_148955.1:n.1334C>T, NM_001354736.1:c.822C>T, NM_001354735.1:c.822C>T, NM_001354737.1:c.726C>T, NM_001354739.1:c.726C>T, NM_001354738.1:c.726C>T, NM_001354740.1:c.657C>T, XM_005268976.4:c.822C>T, XM_005268976.3:c.822C>T, XM_005268976.2:c.822C>T, XM_005268976.1:c.822C>T, XM_011538487.2:c.1032C>T, XM_011538487.1:c.822C>T, XM_005268974.2:c.822C>T, XM_005268974.1:c.822C>T, XM_024449020.2:c.735C>T, XM_024449020.1:c.735C>T, XM_017019469.2:c.726C>T, XM_017019469.1:c.726C>T, XM_024449021.2:c.612C>T, XM_024449021.1:c.612C>T, XM_024449022.2:c.513C>T, XM_024449022.1:c.513C>T, XM_047428999.1:c.1032C>T, XM_047429000.1:c.936C>T, XM_047429001.1:c.831C>T, XM_047429002.1:c.735C>T, XM_047429003.1:c.657C>T, XM_047429004.1:c.612C>T
                      12.

                      rs1482850430 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:48132966 (GRCh38)
                        12:48526749 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:48132965:T:C
                        Gene:
                        PFKM (Varview), MIR6505 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.48132966T>C, NC_000012.11:g.48526749T>C, NG_016199.2:g.32714T>C, NM_000289.6:c.336T>C, NM_000289.5:c.336T>C, NR_148957.2:n.387T>C, NR_148957.1:n.521T>C, NM_001166686.2:c.549T>C, NM_001166686.1:c.549T>C, NM_001354743.2:c.336T>C, NM_001354743.1:c.336T>C, NR_148954.2:n.387T>C, NR_148954.1:n.521T>C, NM_001354745.2:c.249T>C, NM_001354745.1:c.249T>C, NR_148956.2:n.313T>C, NR_148956.1:n.447T>C, NR_148958.2:n.387T>C, NR_148958.1:n.521T>C, NM_001354741.2:c.360T>C, NM_001354741.1:c.360T>C, NR_148959.2:n.313T>C, NR_148959.1:n.447T>C, NM_001166688.2:c.336T>C, NM_001166688.1:c.336T>C, NM_001354744.2:c.336T>C, NM_001354744.1:c.336T>C, NM_001354742.2:c.336T>C, NM_001354742.1:c.336T>C, NM_001166687.2:c.336T>C, NM_001166687.1:c.336T>C, NM_001354747.2:c.186T>C, NM_001354747.1:c.186T>C, NM_001354748.2:c.186T>C, NM_001354748.1:c.186T>C, NM_001363619.2:c.336T>C, NM_001363619.1:c.336T>C, NM_001354746.2:c.336T>C, NM_001354746.1:c.336T>C, NR_148955.1:n.1157T>C, NM_001354736.1:c.645T>C, NM_001354735.1:c.645T>C, NM_001354737.1:c.549T>C, NM_001354739.1:c.549T>C, NM_001354738.1:c.549T>C, NM_001354740.1:c.480T>C, XM_005268976.4:c.645T>C, XM_005268976.3:c.645T>C, XM_005268976.2:c.645T>C, XM_005268976.1:c.645T>C, XM_011538487.2:c.855T>C, XM_011538487.1:c.645T>C, XM_005268974.2:c.645T>C, XM_005268974.1:c.645T>C, XM_024449020.2:c.558T>C, XM_024449020.1:c.558T>C, XM_017019469.2:c.549T>C, XM_017019469.1:c.549T>C, XM_024449021.2:c.435T>C, XM_024449021.1:c.435T>C, XM_024449022.2:c.336T>C, XM_024449022.1:c.336T>C, XM_047428999.1:c.855T>C, XM_047429000.1:c.759T>C, XM_047429001.1:c.654T>C, XM_047429002.1:c.558T>C, XM_047429003.1:c.480T>C, XM_047429004.1:c.435T>C
                        13.

                        rs1482124945 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          12:48106164 (GRCh38)
                          12:48499947 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:48106163:A:G,NC_000012.12:48106163:A:T
                          Gene:
                          PFKM (Varview), SENP1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000008/1 (GnomAD_exomes)
                          G=0.000685/2 (KOREAN)
                          HGVS:
                          14.

                          rs1481691825 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:48122843 (GRCh38)
                            12:48516626 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:48122842:T:C
                            Gene:
                            PFKM (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000012.12:g.48122843T>C, NC_000012.11:g.48516626T>C, NG_016199.2:g.22591T>C, NM_000289.6:c.69T>C, NM_000289.5:c.69T>C, NR_148957.2:n.120T>C, NR_148957.1:n.254T>C, NM_001166686.2:c.282T>C, NM_001166686.1:c.282T>C, NM_001354743.2:c.69T>C, NM_001354743.1:c.69T>C, NR_148954.2:n.120T>C, NR_148954.1:n.254T>C, NM_001354745.2:c.-257T>C, NM_001354745.1:c.-257T>C, NR_148956.2:n.120T>C, NR_148956.1:n.254T>C, NR_148958.2:n.120T>C, NR_148958.1:n.254T>C, NM_001354741.2:c.93T>C, NM_001354741.1:c.93T>C, NR_148959.2:n.120T>C, NR_148959.1:n.254T>C, NM_001166688.2:c.69T>C, NM_001166688.1:c.69T>C, NM_001354744.2:c.69T>C, NM_001354744.1:c.69T>C, NM_001354742.2:c.69T>C, NM_001354742.1:c.69T>C, NM_001166687.2:c.69T>C, NM_001166687.1:c.69T>C, NM_001354747.2:c.-8T>C, NM_001354747.1:c.-8T>C, NM_001354748.2:c.-8T>C, NM_001354748.1:c.-8T>C, NM_001363619.2:c.69T>C, NM_001363619.1:c.69T>C, NM_001354746.2:c.69T>C, NM_001354746.1:c.69T>C, NR_148955.1:n.652T>C, NM_001354736.1:c.378T>C, NM_001354735.1:c.378T>C, NM_001354737.1:c.282T>C, NM_001354739.1:c.282T>C, NM_001354738.1:c.282T>C, NM_001354740.1:c.213T>C, XM_005268976.4:c.378T>C, XM_005268976.3:c.378T>C, XM_005268976.2:c.378T>C, XM_005268976.1:c.378T>C, XM_011538487.2:c.588T>C, XM_011538487.1:c.378T>C, XM_005268974.2:c.378T>C, XM_005268974.1:c.378T>C, XM_024449020.2:c.291T>C, XM_024449020.1:c.291T>C, XM_017019469.2:c.282T>C, XM_017019469.1:c.282T>C, XM_024449021.2:c.168T>C, XM_024449021.1:c.168T>C, XM_024449022.2:c.69T>C, XM_024449022.1:c.69T>C, XM_047428999.1:c.588T>C, XM_047429000.1:c.492T>C, XM_047429001.1:c.387T>C, XM_047429002.1:c.291T>C, XM_047429003.1:c.213T>C, XM_047429004.1:c.168T>C
                            15.

                            rs1480383508 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              12:48135032 (GRCh38)
                              12:48528815 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:48135031:C:G,NC_000012.12:48135031:C:T
                              Gene:
                              PFKM (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000012.12:g.48135032C>G, NC_000012.12:g.48135032C>T, NC_000012.11:g.48528815C>G, NC_000012.11:g.48528815C>T, NG_016199.2:g.34780C>G, NG_016199.2:g.34780C>T, NM_000289.6:c.837C>G, NM_000289.6:c.837C>T, NM_000289.5:c.837C>G, NM_000289.5:c.837C>T, NR_148957.2:n.888C>G, NR_148957.2:n.888C>T, NR_148957.1:n.1022C>G, NR_148957.1:n.1022C>T, NM_001166686.2:c.1050C>G, NM_001166686.2:c.1050C>T, NM_001166686.1:c.1050C>G, NM_001166686.1:c.1050C>T, NM_001354743.2:c.837C>G, NM_001354743.2:c.837C>T, NM_001354743.1:c.837C>G, NM_001354743.1:c.837C>T, NR_148954.2:n.888C>G, NR_148954.2:n.888C>T, NR_148954.1:n.1022C>G, NR_148954.1:n.1022C>T, NM_001354745.2:c.750C>G, NM_001354745.2:c.750C>T, NM_001354745.1:c.750C>G, NM_001354745.1:c.750C>T, NR_148956.2:n.814C>G, NR_148956.2:n.814C>T, NR_148956.1:n.948C>G, NR_148956.1:n.948C>T, NR_148958.2:n.888C>G, NR_148958.2:n.888C>T, NR_148958.1:n.1022C>G, NR_148958.1:n.1022C>T, NM_001354741.2:c.861C>G, NM_001354741.2:c.861C>T, NM_001354741.1:c.861C>G, NM_001354741.1:c.861C>T, NR_148959.2:n.814C>G, NR_148959.2:n.814C>T, NR_148959.1:n.948C>G, NR_148959.1:n.948C>T, NM_001166688.2:c.837C>G, NM_001166688.2:c.837C>T, NM_001166688.1:c.837C>G, NM_001166688.1:c.837C>T, NM_001354744.2:c.837C>G, NM_001354744.2:c.837C>T, NM_001354744.1:c.837C>G, NM_001354744.1:c.837C>T, NM_001354742.2:c.837C>G, NM_001354742.2:c.837C>T, NM_001354742.1:c.837C>G, NM_001354742.1:c.837C>T, NM_001166687.2:c.837C>G, NM_001166687.2:c.837C>T, NM_001166687.1:c.837C>G, NM_001166687.1:c.837C>T, NM_001354747.2:c.687C>G, NM_001354747.2:c.687C>T, NM_001354747.1:c.687C>G, NM_001354747.1:c.687C>T, NM_001354748.2:c.687C>G, NM_001354748.2:c.687C>T, NM_001354748.1:c.687C>G, NM_001354748.1:c.687C>T, NM_001363619.2:c.837C>G, NM_001363619.2:c.837C>T, NM_001363619.1:c.837C>G, NM_001363619.1:c.837C>T, NM_001354746.2:c.837C>G, NM_001354746.2:c.837C>T, NM_001354746.1:c.837C>G, NM_001354746.1:c.837C>T, NR_148955.1:n.1658C>G, NR_148955.1:n.1658C>T, NM_001354736.1:c.1146C>G, NM_001354736.1:c.1146C>T, NM_001354735.1:c.1146C>G, NM_001354735.1:c.1146C>T, NM_001354737.1:c.1050C>G, NM_001354737.1:c.1050C>T, NM_001354739.1:c.1050C>G, NM_001354739.1:c.1050C>T, NM_001354738.1:c.1050C>G, NM_001354738.1:c.1050C>T, NM_001354740.1:c.981C>G, NM_001354740.1:c.981C>T, XM_005268976.4:c.1146C>G, XM_005268976.4:c.1146C>T, XM_005268976.3:c.1146C>G, XM_005268976.3:c.1146C>T, XM_005268976.2:c.1146C>G, XM_005268976.2:c.1146C>T, XM_005268976.1:c.1146C>G, XM_005268976.1:c.1146C>T, XM_011538487.2:c.1356C>G, XM_011538487.2:c.1356C>T, XM_011538487.1:c.1146C>G, XM_011538487.1:c.1146C>T, XM_005268974.2:c.1146C>G, XM_005268974.2:c.1146C>T, XM_005268974.1:c.1146C>G, XM_005268974.1:c.1146C>T, XM_024449020.2:c.1059C>G, XM_024449020.2:c.1059C>T, XM_024449020.1:c.1059C>G, XM_024449020.1:c.1059C>T, XM_017019469.2:c.1050C>G, XM_017019469.2:c.1050C>T, XM_017019469.1:c.1050C>G, XM_017019469.1:c.1050C>T, XM_024449021.2:c.936C>G, XM_024449021.2:c.936C>T, XM_024449021.1:c.936C>G, XM_024449021.1:c.936C>T, XM_024449022.2:c.837C>G, XM_024449022.2:c.837C>T, XM_024449022.1:c.837C>G, XM_024449022.1:c.837C>T, XM_047428999.1:c.1356C>G, XM_047428999.1:c.1356C>T, XM_047429000.1:c.1260C>G, XM_047429000.1:c.1260C>T, XM_047429001.1:c.1155C>G, XM_047429001.1:c.1155C>T, XM_047429002.1:c.1059C>G, XM_047429002.1:c.1059C>T, XM_047429003.1:c.981C>G, XM_047429003.1:c.981C>T, XM_047429004.1:c.936C>G, XM_047429004.1:c.936C>T, NP_000280.1:p.Ile279Met, NP_001160158.1:p.Ile350Met, NP_001341672.1:p.Ile279Met, NP_001341674.1:p.Ile250Met, NP_001341670.1:p.Ile287Met, NP_001160160.1:p.Ile279Met, NP_001341673.1:p.Ile279Met, NP_001341671.1:p.Ile279Met, NP_001160159.1:p.Ile279Met, NP_001341676.1:p.Ile229Met, NP_001341677.1:p.Ile229Met, NP_001350548.1:p.Ile279Met, NP_001341675.1:p.Ile279Met, NP_001341665.1:p.Ile382Met, NP_001341664.1:p.Ile382Met, NP_001341666.1:p.Ile350Met, NP_001341668.1:p.Ile350Met, NP_001341667.1:p.Ile350Met, NP_001341669.1:p.Ile327Met, XP_005269033.1:p.Ile382Met, XP_011536789.2:p.Ile452Met, XP_005269031.1:p.Ile382Met, XP_024304788.1:p.Ile353Met, XP_016874958.1:p.Ile350Met, XP_024304789.1:p.Ile312Met, XP_024304790.1:p.Ile279Met, XP_047284955.1:p.Ile452Met, XP_047284956.1:p.Ile420Met, XP_047284957.1:p.Ile385Met, XP_047284958.1:p.Ile353Met, XP_047284959.1:p.Ile327Met, XP_047284960.1:p.Ile312Met
                              16.

                              rs1479575063 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:48132906 (GRCh38)
                                12:48526689 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:48132905:T:C
                                Gene:
                                PFKM (Varview), MIR6505 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000011/3 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000012.12:g.48132906T>C, NC_000012.11:g.48526689T>C, NG_016199.2:g.32654T>C, NM_000289.6:c.276T>C, NM_000289.5:c.276T>C, NR_148957.2:n.327T>C, NR_148957.1:n.461T>C, NM_001166686.2:c.489T>C, NM_001166686.1:c.489T>C, NM_001354743.2:c.276T>C, NM_001354743.1:c.276T>C, NR_148954.2:n.327T>C, NR_148954.1:n.461T>C, NM_001354745.2:c.189T>C, NM_001354745.1:c.189T>C, NR_148956.2:n.253T>C, NR_148956.1:n.387T>C, NR_148958.2:n.327T>C, NR_148958.1:n.461T>C, NM_001354741.2:c.300T>C, NM_001354741.1:c.300T>C, NR_148959.2:n.253T>C, NR_148959.1:n.387T>C, NM_001166688.2:c.276T>C, NM_001166688.1:c.276T>C, NM_001354744.2:c.276T>C, NM_001354744.1:c.276T>C, NM_001354742.2:c.276T>C, NM_001354742.1:c.276T>C, NM_001166687.2:c.276T>C, NM_001166687.1:c.276T>C, NM_001354747.2:c.126T>C, NM_001354747.1:c.126T>C, NM_001354748.2:c.126T>C, NM_001354748.1:c.126T>C, NM_001363619.2:c.276T>C, NM_001363619.1:c.276T>C, NM_001354746.2:c.276T>C, NM_001354746.1:c.276T>C, NR_148955.1:n.1097T>C, NM_001354736.1:c.585T>C, NM_001354735.1:c.585T>C, NM_001354737.1:c.489T>C, NM_001354739.1:c.489T>C, NM_001354738.1:c.489T>C, NM_001354740.1:c.420T>C, XM_005268976.4:c.585T>C, XM_005268976.3:c.585T>C, XM_005268976.2:c.585T>C, XM_005268976.1:c.585T>C, XM_011538487.2:c.795T>C, XM_011538487.1:c.585T>C, XM_005268974.2:c.585T>C, XM_005268974.1:c.585T>C, XM_024449020.2:c.498T>C, XM_024449020.1:c.498T>C, XM_017019469.2:c.489T>C, XM_017019469.1:c.489T>C, XM_024449021.2:c.375T>C, XM_024449021.1:c.375T>C, XM_024449022.2:c.276T>C, XM_024449022.1:c.276T>C, XM_047428999.1:c.795T>C, XM_047429000.1:c.699T>C, XM_047429001.1:c.594T>C, XM_047429002.1:c.498T>C, XM_047429003.1:c.420T>C, XM_047429004.1:c.375T>C
                                17.

                                rs1479230917 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:48142895 (GRCh38)
                                  12:48536678 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:48142894:G:A
                                  Gene:
                                  PFKM (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.48142895G>A, NC_000012.11:g.48536678G>A, NG_016199.2:g.42643G>A, NM_000289.6:c.1767G>A, NM_000289.5:c.1767G>A, NR_148957.2:n.2225G>A, NR_148957.1:n.2359G>A, NM_001166686.2:c.1980G>A, NM_001166686.1:c.1980G>A, NM_001354743.2:c.1767G>A, NM_001354743.1:c.1767G>A, NR_148954.2:n.2070G>A, NR_148954.1:n.2204G>A, NM_001354745.2:c.1680G>A, NM_001354745.1:c.1680G>A, NR_148956.2:n.1996G>A, NR_148956.1:n.2130G>A, NR_148958.2:n.1973G>A, NR_148958.1:n.2107G>A, NM_001354741.2:c.1791G>A, NM_001354741.1:c.1791G>A, NR_148959.2:n.1899G>A, NR_148959.1:n.2033G>A, NM_001166688.2:c.1767G>A, NM_001166688.1:c.1767G>A, NM_001354744.2:c.1767G>A, NM_001354744.1:c.1767G>A, NM_001354742.2:c.1767G>A, NM_001354742.1:c.1767G>A, NM_001166687.2:c.1767G>A, NM_001166687.1:c.1767G>A, NM_001354747.2:c.1617G>A, NM_001354747.1:c.1617G>A, NM_001354748.2:c.1617G>A, NM_001354748.1:c.1617G>A, NM_001363619.2:c.1674G>A, NM_001363619.1:c.1674G>A, NM_001354746.2:c.1641G>A, NM_001354746.1:c.1641G>A, NR_148955.1:n.2840G>A, NM_001354736.1:c.2076G>A, NM_001354735.1:c.2076G>A, NM_001354737.1:c.1980G>A, NM_001354739.1:c.1980G>A, NM_001354738.1:c.1980G>A, NM_001354740.1:c.1911G>A, XM_005268976.4:c.2076G>A, XM_005268976.3:c.2076G>A, XM_005268976.2:c.2076G>A, XM_005268976.1:c.2076G>A, XM_011538487.2:c.2193G>A, XM_011538487.1:c.1983G>A, XM_005268974.2:c.2076G>A, XM_005268974.1:c.2076G>A, XM_024449020.2:c.1989G>A, XM_024449020.1:c.1989G>A, XM_017019469.2:c.1887G>A, XM_017019469.1:c.1887G>A, XM_024449021.2:c.1866G>A, XM_024449021.1:c.1866G>A, XM_024449022.2:c.1767G>A, XM_024449022.1:c.1767G>A, XM_047428999.1:c.2286G>A, XM_047429000.1:c.2190G>A, XM_047429001.1:c.2085G>A, XM_047429002.1:c.1896G>A, XM_047429003.1:c.1818G>A, XM_047429004.1:c.1773G>A
                                  18.

                                  rs1475125780 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:48145986 (GRCh38)
                                    12:48539769 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:48145985:T:C
                                    Gene:
                                    PFKM (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.48145986T>C, NC_000012.11:g.48539769T>C, NG_016199.2:g.45734T>C, NM_000289.6:c.*278T>C, NM_000289.5:c.*278T>C, NR_148957.2:n.3079T>C, NR_148957.1:n.3213T>C, NM_001166686.2:c.*278T>C, NM_001166686.1:c.*278T>C, NM_001354743.2:c.*278T>C, NM_001354743.1:c.*278T>C, NR_148954.2:n.2924T>C, NR_148954.1:n.3058T>C, NM_001354745.2:c.*278T>C, NM_001354745.1:c.*278T>C, NR_148956.2:n.2850T>C, NR_148956.1:n.2984T>C, NR_148958.2:n.2827T>C, NR_148958.1:n.2961T>C, NM_001354741.2:c.*278T>C, NM_001354741.1:c.*278T>C, NR_148959.2:n.2753T>C, NR_148959.1:n.2887T>C, NM_001166688.2:c.*278T>C, NM_001166688.1:c.*278T>C, NM_001354744.2:c.*278T>C, NM_001354744.1:c.*278T>C, NM_001354742.2:c.*278T>C, NM_001354742.1:c.*278T>C, NM_001166687.2:c.*278T>C, NM_001166687.1:c.*278T>C, NM_001354747.2:c.*278T>C, NM_001354747.1:c.*278T>C, NM_001354748.2:c.*278T>C, NM_001354748.1:c.*278T>C, NM_001363619.2:c.*278T>C, NM_001363619.1:c.*278T>C, NM_001354746.2:c.*278T>C, NM_001354746.1:c.*278T>C, NR_148955.1:n.3694T>C, NM_001354736.1:c.*278T>C, NM_001354735.1:c.*278T>C, NM_001354737.1:c.*278T>C, NM_001354739.1:c.*278T>C, NM_001354738.1:c.*278T>C, NM_001354740.1:c.*278T>C, XM_005268976.4:c.*278T>C, XM_005268976.3:c.*278T>C, XM_005268976.2:c.*278T>C, XM_005268976.1:c.*278T>C, XM_011538487.2:c.*278T>C, XM_011538487.1:c.*278T>C, XM_005268974.2:c.*278T>C, XM_005268974.1:c.*278T>C, XM_024449020.2:c.*278T>C, XM_024449020.1:c.*278T>C, XM_017019469.2:c.*278T>C, XM_017019469.1:c.*278T>C, XM_024449021.2:c.*278T>C, XM_024449021.1:c.*278T>C, XM_024449022.2:c.*278T>C, XM_024449022.1:c.*278T>C, XM_047428999.1:c.*278T>C, XM_047429000.1:c.*278T>C, XM_047429001.1:c.*278T>C, XM_047429002.1:c.*278T>C, XM_047429003.1:c.*278T>C, XM_047429004.1:c.*278T>C
                                    20.

                                    rs1471017151 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:48146252 (GRCh38)
                                      12:48540035 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:48146251:C:T
                                      Gene:
                                      PFKM (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000015/4 (TOPMED)
                                      T=0.000036/5 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.48146252C>T, NC_000012.11:g.48540035C>T, NG_016199.2:g.46000C>T, NM_000289.6:c.*544C>T, NM_000289.5:c.*544C>T, NR_148957.2:n.3345C>T, NR_148957.1:n.3479C>T, NM_001166686.2:c.*544C>T, NM_001166686.1:c.*544C>T, NM_001354743.2:c.*544C>T, NM_001354743.1:c.*544C>T, NR_148954.2:n.3190C>T, NR_148954.1:n.3324C>T, NM_001354745.2:c.*544C>T, NM_001354745.1:c.*544C>T, NR_148956.2:n.3116C>T, NR_148956.1:n.3250C>T, NR_148958.2:n.3093C>T, NR_148958.1:n.3227C>T, NM_001354741.2:c.*544C>T, NM_001354741.1:c.*544C>T, NR_148959.2:n.3019C>T, NR_148959.1:n.3153C>T, NM_001166688.2:c.*544C>T, NM_001166688.1:c.*544C>T, NM_001354744.2:c.*544C>T, NM_001354744.1:c.*544C>T, NM_001354742.2:c.*544C>T, NM_001354742.1:c.*544C>T, NM_001166687.2:c.*544C>T, NM_001166687.1:c.*544C>T, NM_001354747.2:c.*544C>T, NM_001354747.1:c.*544C>T, NM_001354748.2:c.*544C>T, NM_001354748.1:c.*544C>T, NM_001363619.2:c.*544C>T, NM_001363619.1:c.*544C>T, NM_001354746.2:c.*544C>T, NM_001354746.1:c.*544C>T, NR_148955.1:n.3960C>T, NM_001354736.1:c.*544C>T, NM_001354735.1:c.*544C>T, NM_001354737.1:c.*544C>T, NM_001354739.1:c.*544C>T, NM_001354738.1:c.*544C>T, NM_001354740.1:c.*544C>T, XM_005268976.4:c.*544C>T, XM_011538487.2:c.*544C>T, XM_005268974.2:c.*544C>T, XM_024449020.2:c.*544C>T, XM_017019469.2:c.*544C>T, XM_024449021.2:c.*544C>T, XM_024449022.2:c.*544C>T, XM_047428999.1:c.*544C>T, XM_047429000.1:c.*544C>T, XM_047429001.1:c.*544C>T, XM_047429002.1:c.*544C>T, XM_047429003.1:c.*544C>T, XM_047429004.1:c.*544C>T

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