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Items: 1 to 20 of 702

1.

rs1490990743 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    18:47098215 (GRCh38)
    18:44624586 (GRCh37)
    Canonical SPDI:
    NC_000018.10:47098214:C:T
    Gene:
    KATNAL2 (Varview), LOC105372098 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    5.

    rs1486220278 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      18:47075284 (GRCh38)
      18:44601655 (GRCh37)
      Canonical SPDI:
      NC_000018.10:47075283:T:C
      Gene:
      KATNAL2 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000018.10:g.47075284T>C, NC_000018.9:g.44601655T>C, XM_011526221.4:c.1094T>C, XM_011526221.3:c.1094T>C, XM_011526221.2:c.1094T>C, XM_011526221.1:c.1094T>C, XM_005258361.4:c.683T>C, XM_005258361.3:c.683T>C, XM_005258361.2:c.683T>C, XM_005258361.1:c.683T>C, XM_011526219.4:c.1094T>C, XM_011526219.3:c.1094T>C, XM_011526219.2:c.1094T>C, XM_011526219.1:c.1094T>C, XM_011526223.4:c.1094T>C, XM_011526223.3:c.1094T>C, XM_011526223.2:c.1094T>C, XM_011526223.1:c.1094T>C, NM_031303.3:c.800T>C, NM_031303.2:c.800T>C, XM_011526220.3:c.1094T>C, XM_011526220.2:c.1094T>C, XM_011526220.1:c.1094T>C, XM_017026031.2:c.683T>C, XM_017026031.1:c.683T>C, NR_148563.1:n.1485T>C, NM_001387690.1:c.1016T>C, NM_001353899.1:c.1094T>C, NM_001353900.1:c.1091T>C, NM_001353904.1:c.584T>C, NM_001353903.1:c.683T>C, NM_001367621.1:c.1016T>C, NM_001353901.1:c.1016T>C, XM_047437879.1:c.1094T>C, XM_047437880.1:c.1091T>C, NM_001353907.1:c.683T>C, NM_001353905.1:c.683T>C, NM_001353909.1:c.584T>C, XM_047437878.1:c.1091T>C, NM_001353902.1:c.995T>C, NM_001353906.1:c.683T>C, NM_001353908.1:c.584T>C, XM_047437877.1:c.1091T>C, XP_011524523.1:p.Phe365Ser, XP_005258418.1:p.Phe228Ser, XP_011524521.1:p.Phe365Ser, XP_011524525.1:p.Phe365Ser, NP_112593.2:p.Phe267Ser, XP_011524522.1:p.Phe365Ser, XP_016881520.1:p.Phe228Ser, NP_001374619.1:p.Phe339Ser, NP_001340828.1:p.Phe365Ser, NP_001340829.1:p.Phe364Ser, NP_001340833.1:p.Phe195Ser, NP_001340832.1:p.Phe228Ser, NP_001354550.1:p.Phe339Ser, NP_001340830.1:p.Phe339Ser, XP_047293835.1:p.Phe365Ser, XP_047293836.1:p.Phe364Ser, NP_001340836.1:p.Phe228Ser, NP_001340834.1:p.Phe228Ser, NP_001340838.1:p.Phe195Ser, XP_047293834.1:p.Phe364Ser, NP_001340831.1:p.Phe332Ser, NP_001340835.1:p.Phe228Ser, NP_001340837.1:p.Phe195Ser, XP_047293833.1:p.Phe364Ser
      6.
      7.

      rs1484160442 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        18:47075328 (GRCh38)
        18:44601699 (GRCh37)
        Canonical SPDI:
        NC_000018.10:47075327:G:A
        Gene:
        KATNAL2 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant
        HGVS:
        NC_000018.10:g.47075328G>A, NC_000018.9:g.44601699G>A, XM_011526221.4:c.1138G>A, XM_011526221.3:c.1138G>A, XM_011526221.2:c.1138G>A, XM_011526221.1:c.1138G>A, XM_005258361.4:c.727G>A, XM_005258361.3:c.727G>A, XM_005258361.2:c.727G>A, XM_005258361.1:c.727G>A, XM_011526219.4:c.1138G>A, XM_011526219.3:c.1138G>A, XM_011526219.2:c.1138G>A, XM_011526219.1:c.1138G>A, XM_011526223.4:c.1138G>A, XM_011526223.3:c.1138G>A, XM_011526223.2:c.1138G>A, XM_011526223.1:c.1138G>A, NM_031303.3:c.844G>A, NM_031303.2:c.844G>A, XM_011526220.3:c.1138G>A, XM_011526220.2:c.1138G>A, XM_011526220.1:c.1138G>A, XM_017026031.2:c.727G>A, XM_017026031.1:c.727G>A, NR_148563.1:n.1529G>A, NM_001387690.1:c.1060G>A, NM_001353899.1:c.1138G>A, NM_001353900.1:c.1135G>A, NM_001353904.1:c.628G>A, NM_001353903.1:c.727G>A, NM_001367621.1:c.1060G>A, NM_001353901.1:c.1060G>A, XM_047437879.1:c.1138G>A, XM_047437880.1:c.1135G>A, NM_001353907.1:c.727G>A, NM_001353905.1:c.727G>A, NM_001353909.1:c.628G>A, XM_047437878.1:c.1135G>A, NM_001353902.1:c.1039G>A, NM_001353906.1:c.727G>A, NM_001353908.1:c.628G>A, XM_047437877.1:c.1135G>A, XP_011524523.1:p.Glu380Lys, XP_005258418.1:p.Glu243Lys, XP_011524521.1:p.Glu380Lys, XP_011524525.1:p.Glu380Lys, NP_112593.2:p.Glu282Lys, XP_011524522.1:p.Glu380Lys, XP_016881520.1:p.Glu243Lys, NP_001374619.1:p.Glu354Lys, NP_001340828.1:p.Glu380Lys, NP_001340829.1:p.Glu379Lys, NP_001340833.1:p.Glu210Lys, NP_001340832.1:p.Glu243Lys, NP_001354550.1:p.Glu354Lys, NP_001340830.1:p.Glu354Lys, XP_047293835.1:p.Glu380Lys, XP_047293836.1:p.Glu379Lys, NP_001340836.1:p.Glu243Lys, NP_001340834.1:p.Glu243Lys, NP_001340838.1:p.Glu210Lys, XP_047293834.1:p.Glu379Lys, NP_001340831.1:p.Glu347Lys, NP_001340835.1:p.Glu243Lys, NP_001340837.1:p.Glu210Lys, XP_047293833.1:p.Glu379Lys
        8.

        rs1483608407 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          18:47077413 (GRCh38)
          18:44603784 (GRCh37)
          Canonical SPDI:
          NC_000018.10:47077412:C:T
          Gene:
          KATNAL2 (Varview), LOC105372098 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000018.10:g.47077413C>T, NC_000018.9:g.44603784C>T, XM_011526221.4:c.1241C>T, XM_011526221.3:c.1241C>T, XM_011526221.2:c.1241C>T, XM_011526221.1:c.1241C>T, XM_005258361.4:c.830C>T, XM_005258361.3:c.830C>T, XM_005258361.2:c.830C>T, XM_005258361.1:c.830C>T, XM_011526219.4:c.1241C>T, XM_011526219.3:c.1241C>T, XM_011526219.2:c.1241C>T, XM_011526219.1:c.1241C>T, XM_011526223.4:c.1241C>T, XM_011526223.3:c.1241C>T, XM_011526223.2:c.1241C>T, XM_011526223.1:c.1241C>T, NM_031303.3:c.947C>T, NM_031303.2:c.947C>T, XR_935432.3:n.1336G>A, XR_935432.2:n.1055G>A, XR_935432.1:n.1055G>A, XM_011526220.3:c.1241C>T, XM_011526220.2:c.1241C>T, XM_011526220.1:c.1241C>T, XR_002958192.2:n.5010G>A, XR_002958192.1:n.5878G>A, XM_017026031.2:c.830C>T, XM_017026031.1:c.830C>T, NR_148563.1:n.1632C>T, NM_001387690.1:c.1163C>T, NM_001353899.1:c.1241C>T, NM_001353900.1:c.1238C>T, NM_001353904.1:c.731C>T, NM_001353903.1:c.830C>T, NM_001367621.1:c.1163C>T, NM_001353901.1:c.1163C>T, XM_047437879.1:c.1241C>T, XM_047437880.1:c.1238C>T, NM_001353907.1:c.830C>T, NM_001353905.1:c.830C>T, NM_001353909.1:c.731C>T, XM_047437878.1:c.1238C>T, NM_001353902.1:c.1142C>T, NM_001353906.1:c.830C>T, NM_001353908.1:c.731C>T, XM_047437877.1:c.1238C>T, XP_011524523.1:p.Ala414Val, XP_005258418.1:p.Ala277Val, XP_011524521.1:p.Ala414Val, XP_011524525.1:p.Ala414Val, NP_112593.2:p.Ala316Val, XP_011524522.1:p.Ala414Val, XP_016881520.1:p.Ala277Val, NP_001374619.1:p.Ala388Val, NP_001340828.1:p.Ala414Val, NP_001340829.1:p.Ala413Val, NP_001340833.1:p.Ala244Val, NP_001340832.1:p.Ala277Val, NP_001354550.1:p.Ala388Val, NP_001340830.1:p.Ala388Val, XP_047293835.1:p.Ala414Val, XP_047293836.1:p.Ala413Val, NP_001340836.1:p.Ala277Val, NP_001340834.1:p.Ala277Val, NP_001340838.1:p.Ala244Val, XP_047293834.1:p.Ala413Val, NP_001340831.1:p.Ala381Val, NP_001340835.1:p.Ala277Val, NP_001340837.1:p.Ala244Val, XP_047293833.1:p.Ala413Val
          9.

          rs1483579139 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            18:47067111 (GRCh38)
            18:44593482 (GRCh37)
            Canonical SPDI:
            NC_000018.10:47067110:C:T
            Gene:
            KATNAL2 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:
            NC_000018.10:g.47067111C>T, NC_000018.9:g.44593482C>T, XM_011526221.4:c.895C>T, XM_011526221.3:c.895C>T, XM_011526221.2:c.895C>T, XM_011526221.1:c.895C>T, XM_005258361.4:c.484C>T, XM_005258361.3:c.484C>T, XM_005258361.2:c.484C>T, XM_005258361.1:c.484C>T, XM_011526219.4:c.895C>T, XM_011526219.3:c.895C>T, XM_011526219.2:c.895C>T, XM_011526219.1:c.895C>T, XM_011526223.4:c.895C>T, XM_011526223.3:c.895C>T, XM_011526223.2:c.895C>T, XM_011526223.1:c.895C>T, NM_031303.3:c.601C>T, NM_031303.2:c.601C>T, XM_011526220.3:c.895C>T, XM_011526220.2:c.895C>T, XM_011526220.1:c.895C>T, XM_017026031.2:c.484C>T, XM_017026031.1:c.484C>T, NM_001387690.1:c.817C>T, NM_001353899.1:c.895C>T, NM_001353900.1:c.892C>T, NM_001353903.1:c.484C>T, NM_001367621.1:c.817C>T, NM_001353901.1:c.817C>T, XM_047437879.1:c.895C>T, XM_047437880.1:c.892C>T, NM_001353907.1:c.484C>T, NM_001353905.1:c.484C>T, XM_047437878.1:c.892C>T, NM_001353906.1:c.484C>T, XM_047437877.1:c.892C>T, XP_011524523.1:p.Pro299Ser, XP_005258418.1:p.Pro162Ser, XP_011524521.1:p.Pro299Ser, XP_011524525.1:p.Pro299Ser, NP_112593.2:p.Pro201Ser, XP_011524522.1:p.Pro299Ser, XP_016881520.1:p.Pro162Ser, NP_001374619.1:p.Pro273Ser, NP_001340828.1:p.Pro299Ser, NP_001340829.1:p.Pro298Ser, NP_001340832.1:p.Pro162Ser, NP_001354550.1:p.Pro273Ser, NP_001340830.1:p.Pro273Ser, XP_047293835.1:p.Pro299Ser, XP_047293836.1:p.Pro298Ser, NP_001340836.1:p.Pro162Ser, NP_001340834.1:p.Pro162Ser, XP_047293834.1:p.Pro298Ser, NP_001340835.1:p.Pro162Ser, XP_047293833.1:p.Pro298Ser
            10.

            rs1483214325 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              18:46917794 (GRCh38)
              18:44497757 (GRCh37)
              Canonical SPDI:
              NC_000018.10:46917793:G:A,NC_000018.10:46917793:G:C
              Gene:
              PIAS2 (Varview), KATNAL2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000224/1 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000223/1 (Estonian)
              HGVS:
              NC_000018.10:g.46917794G>A, NC_000018.10:g.46917794G>C, NC_000018.9:g.44497757G>A, NC_000018.9:g.44497757G>C, NG_029865.2:g.4739C>T, NG_029865.2:g.4739C>G, XM_011526221.4:c.-293G>A, XM_011526221.4:c.-293G>C, XM_011526221.3:c.-293G>A, XM_011526221.3:c.-293G>C, XM_011526221.2:c.-293G>A, XM_011526221.2:c.-293G>C, XM_011526221.1:c.-293G>A, XM_011526221.1:c.-293G>C, XM_011526219.4:c.-293G>A, XM_011526219.4:c.-293G>C, XM_011526219.3:c.-293G>A, XM_011526219.3:c.-293G>C, XM_011526219.2:c.-293G>A, XM_011526219.2:c.-293G>C, XM_011526219.1:c.-293G>A, XM_011526219.1:c.-293G>C, XM_011526223.4:c.-293G>A, XM_011526223.4:c.-293G>C, XM_011526223.3:c.-293G>A, XM_011526223.3:c.-293G>C, XM_011526223.2:c.-293G>A, XM_011526223.2:c.-293G>C, XM_011526223.1:c.-293G>A, XM_011526223.1:c.-293G>C, XM_011526220.3:c.-293G>A, XM_011526220.3:c.-293G>C, XM_011526220.2:c.-293G>A, XM_011526220.2:c.-293G>C, XM_011526220.1:c.-293G>A, XM_011526220.1:c.-293G>C, NR_148563.1:n.201G>A, NR_148563.1:n.201G>C, NM_001387690.1:c.-642G>A, NM_001387690.1:c.-642G>C, NM_001353899.1:c.-293G>A, NM_001353899.1:c.-293G>C, NM_001353900.1:c.-293G>A, NM_001353900.1:c.-293G>C, NM_001353904.1:c.-694G>A, NM_001353904.1:c.-694G>C, NM_001353903.1:c.-423G>A, NM_001353903.1:c.-423G>C, NM_001353901.1:c.-642G>A, NM_001353901.1:c.-642G>C, XM_047437879.1:c.-293G>A, XM_047437879.1:c.-293G>C, XM_047437880.1:c.-293G>A, XM_047437880.1:c.-293G>C, NM_001353907.1:c.-694G>A, NM_001353907.1:c.-694G>C, NM_001353905.1:c.-716G>A, NM_001353905.1:c.-716G>C, NM_001353909.1:c.-694G>A, NM_001353909.1:c.-694G>C, XM_047437878.1:c.-293G>A, XM_047437878.1:c.-293G>C, NM_001353902.1:c.-293G>A, NM_001353902.1:c.-293G>C, NM_001353906.1:c.-423G>A, NM_001353906.1:c.-423G>C, NM_001353908.1:c.-423G>A, NM_001353908.1:c.-423G>C, XM_047437877.1:c.-293G>A, XM_047437877.1:c.-293G>C
              11.

              rs1482599651 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                18:47069583 (GRCh38)
                18:44595954 (GRCh37)
                Canonical SPDI:
                NC_000018.10:47069582:T:A
                Gene:
                KATNAL2 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000018.10:g.47069583T>A, NC_000018.9:g.44595954T>A, XM_011526221.4:c.1069T>A, XM_011526221.3:c.1069T>A, XM_011526221.2:c.1069T>A, XM_011526221.1:c.1069T>A, XM_005258361.4:c.658T>A, XM_005258361.3:c.658T>A, XM_005258361.2:c.658T>A, XM_005258361.1:c.658T>A, XM_011526219.4:c.1069T>A, XM_011526219.3:c.1069T>A, XM_011526219.2:c.1069T>A, XM_011526219.1:c.1069T>A, XM_011526223.4:c.1069T>A, XM_011526223.3:c.1069T>A, XM_011526223.2:c.1069T>A, XM_011526223.1:c.1069T>A, NM_031303.3:c.775T>A, NM_031303.2:c.775T>A, XM_011526220.3:c.1069T>A, XM_011526220.2:c.1069T>A, XM_011526220.1:c.1069T>A, XM_017026031.2:c.658T>A, XM_017026031.1:c.658T>A, NR_148563.1:n.1460T>A, NM_001387690.1:c.991T>A, NM_001353899.1:c.1069T>A, NM_001353900.1:c.1066T>A, NM_001353904.1:c.559T>A, NM_001353903.1:c.658T>A, NM_001367621.1:c.991T>A, NM_001353901.1:c.991T>A, XM_047437879.1:c.1069T>A, XM_047437880.1:c.1066T>A, NM_001353907.1:c.658T>A, NM_001353905.1:c.658T>A, NM_001353909.1:c.559T>A, XM_047437878.1:c.1066T>A, NM_001353902.1:c.970T>A, NM_001353906.1:c.658T>A, NM_001353908.1:c.559T>A, XM_047437877.1:c.1066T>A, XP_011524523.1:p.Ser357Thr, XP_005258418.1:p.Ser220Thr, XP_011524521.1:p.Ser357Thr, XP_011524525.1:p.Ser357Thr, NP_112593.2:p.Ser259Thr, XP_011524522.1:p.Ser357Thr, XP_016881520.1:p.Ser220Thr, NP_001374619.1:p.Ser331Thr, NP_001340828.1:p.Ser357Thr, NP_001340829.1:p.Ser356Thr, NP_001340833.1:p.Ser187Thr, NP_001340832.1:p.Ser220Thr, NP_001354550.1:p.Ser331Thr, NP_001340830.1:p.Ser331Thr, XP_047293835.1:p.Ser357Thr, XP_047293836.1:p.Ser356Thr, NP_001340836.1:p.Ser220Thr, NP_001340834.1:p.Ser220Thr, NP_001340838.1:p.Ser187Thr, XP_047293834.1:p.Ser356Thr, NP_001340831.1:p.Ser324Thr, NP_001340835.1:p.Ser220Thr, NP_001340837.1:p.Ser187Thr, XP_047293833.1:p.Ser356Thr
                13.

                rs1480677459 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  18:47098716 (GRCh38)
                  18:44625087 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:47098715:G:C
                  Gene:
                  KATNAL2 (Varview), LOC105372098 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  15.

                  rs1477777862 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    18:46946880 (GRCh38)
                    18:44526843 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:46946879:T:C
                    Gene:
                    KATNAL2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000007/1 (GnomAD_exomes)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000018.10:g.46946880T>C, NC_000018.9:g.44526843T>C, XM_011526221.4:c.86T>C, XM_011526221.3:c.86T>C, XM_011526221.2:c.86T>C, XM_011526221.1:c.86T>C, XM_011526219.4:c.86T>C, XM_011526219.3:c.86T>C, XM_011526219.2:c.86T>C, XM_011526219.1:c.86T>C, XM_011526223.4:c.86T>C, XM_011526223.3:c.86T>C, XM_011526223.2:c.86T>C, XM_011526223.1:c.86T>C, NM_031303.3:c.-138T>C, NM_031303.2:c.-138T>C, XM_011526220.3:c.86T>C, XM_011526220.2:c.86T>C, XM_011526220.1:c.86T>C, NR_148563.1:n.579T>C, NM_001387690.1:c.8T>C, NM_001353899.1:c.86T>C, NM_001353900.1:c.86T>C, NM_001353904.1:c.-45T>C, NM_001353903.1:c.-45T>C, NM_001367621.1:c.8T>C, NM_001353901.1:c.8T>C, XM_047437879.1:c.86T>C, XM_047437880.1:c.86T>C, NM_001353907.1:c.-45T>C, NM_001353905.1:c.-338T>C, NM_001353909.1:c.-45T>C, XM_047437878.1:c.86T>C, NM_001353902.1:c.86T>C, NM_001353906.1:c.-45T>C, NM_001353908.1:c.-45T>C, XM_047437877.1:c.86T>C, XP_011524523.1:p.Leu29Pro, XP_011524521.1:p.Leu29Pro, XP_011524525.1:p.Leu29Pro, XP_011524522.1:p.Leu29Pro, NP_001374619.1:p.Leu3Pro, NP_001340828.1:p.Leu29Pro, NP_001340829.1:p.Leu29Pro, NP_001354550.1:p.Leu3Pro, NP_001340830.1:p.Leu3Pro, XP_047293835.1:p.Leu29Pro, XP_047293836.1:p.Leu29Pro, XP_047293834.1:p.Leu29Pro, NP_001340831.1:p.Leu29Pro, XP_047293833.1:p.Leu29Pro
                    16.

                    rs1477482530 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      18:46946882 (GRCh38)
                      18:44526845 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:46946881:T:G
                      Gene:
                      KATNAL2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000018.10:g.46946882T>G, NC_000018.9:g.44526845T>G, XM_011526221.4:c.88T>G, XM_011526221.3:c.88T>G, XM_011526221.2:c.88T>G, XM_011526221.1:c.88T>G, XM_011526219.4:c.88T>G, XM_011526219.3:c.88T>G, XM_011526219.2:c.88T>G, XM_011526219.1:c.88T>G, XM_011526223.4:c.88T>G, XM_011526223.3:c.88T>G, XM_011526223.2:c.88T>G, XM_011526223.1:c.88T>G, NM_031303.3:c.-136T>G, NM_031303.2:c.-136T>G, XM_011526220.3:c.88T>G, XM_011526220.2:c.88T>G, XM_011526220.1:c.88T>G, NR_148563.1:n.581T>G, NM_001387690.1:c.10T>G, NM_001353899.1:c.88T>G, NM_001353900.1:c.88T>G, NM_001353904.1:c.-43T>G, NM_001353903.1:c.-43T>G, NM_001367621.1:c.10T>G, NM_001353901.1:c.10T>G, XM_047437879.1:c.88T>G, XM_047437880.1:c.88T>G, NM_001353907.1:c.-43T>G, NM_001353905.1:c.-336T>G, NM_001353909.1:c.-43T>G, XM_047437878.1:c.88T>G, NM_001353902.1:c.88T>G, NM_001353906.1:c.-43T>G, NM_001353908.1:c.-43T>G, XM_047437877.1:c.88T>G, XP_011524523.1:p.Ser30Ala, XP_011524521.1:p.Ser30Ala, XP_011524525.1:p.Ser30Ala, XP_011524522.1:p.Ser30Ala, NP_001374619.1:p.Ser4Ala, NP_001340828.1:p.Ser30Ala, NP_001340829.1:p.Ser30Ala, NP_001354550.1:p.Ser4Ala, NP_001340830.1:p.Ser4Ala, XP_047293835.1:p.Ser30Ala, XP_047293836.1:p.Ser30Ala, XP_047293834.1:p.Ser30Ala, NP_001340831.1:p.Ser30Ala, XP_047293833.1:p.Ser30Ala
                      19.

                      rs1474647314 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        18:47077461 (GRCh38)
                        18:44603832 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:47077460:G:C
                        Gene:
                        KATNAL2 (Varview), LOC105372098 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000018.10:g.47077461G>C, NC_000018.9:g.44603832G>C, XM_011526221.4:c.1289G>C, XM_011526221.3:c.1289G>C, XM_011526221.2:c.1289G>C, XM_011526221.1:c.1289G>C, XM_005258361.4:c.878G>C, XM_005258361.3:c.878G>C, XM_005258361.2:c.878G>C, XM_005258361.1:c.878G>C, XM_011526219.4:c.1289G>C, XM_011526219.3:c.1289G>C, XM_011526219.2:c.1289G>C, XM_011526219.1:c.1289G>C, XM_011526223.4:c.1289G>C, XM_011526223.3:c.1289G>C, XM_011526223.2:c.1289G>C, XM_011526223.1:c.1289G>C, NM_031303.3:c.995G>C, NM_031303.2:c.995G>C, XM_011526220.3:c.1289G>C, XM_011526220.2:c.1289G>C, XM_011526220.1:c.1289G>C, XM_017026031.2:c.878G>C, XM_017026031.1:c.878G>C, NR_148563.1:n.1680G>C, NM_001387690.1:c.1211G>C, NM_001353899.1:c.1289G>C, NM_001353900.1:c.1286G>C, NM_001353904.1:c.779G>C, NM_001353903.1:c.878G>C, NM_001367621.1:c.1211G>C, NM_001353901.1:c.1211G>C, XM_047437879.1:c.1289G>C, XM_047437880.1:c.1286G>C, NM_001353907.1:c.878G>C, NM_001353905.1:c.878G>C, NM_001353909.1:c.779G>C, XM_047437878.1:c.1286G>C, NM_001353902.1:c.1190G>C, NM_001353906.1:c.878G>C, NM_001353908.1:c.779G>C, XM_047437877.1:c.1286G>C, XP_011524523.1:p.Trp430Ser, XP_005258418.1:p.Trp293Ser, XP_011524521.1:p.Cys430Ser, XP_011524525.1:p.Cys430Ser, NP_112593.2:p.Trp332Ser, XP_011524522.1:p.Cys430Ser, XP_016881520.1:p.Trp293Ser, NP_001374619.1:p.Trp404Ser, NP_001340828.1:p.Trp430Ser, NP_001340829.1:p.Trp429Ser, NP_001340833.1:p.Trp260Ser, NP_001340832.1:p.Trp293Ser, NP_001354550.1:p.Trp404Ser, NP_001340830.1:p.Cys404Ser, XP_047293835.1:p.Trp430Ser, XP_047293836.1:p.Trp429Ser, NP_001340836.1:p.Trp293Ser, NP_001340834.1:p.Cys293Ser, NP_001340838.1:p.Cys260Ser, XP_047293834.1:p.Cys429Ser, NP_001340831.1:p.Cys397Ser, NP_001340835.1:p.Cys293Ser, NP_001340837.1:p.Cys260Ser, XP_047293833.1:p.Cys429Ser
                        20.

                        rs1474343258 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          18:47098927 (GRCh38)
                          18:44625298 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:47098926:C:T
                          Gene:
                          KATNAL2 (Varview), LOC105372098 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000023/6 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          HGVS:

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