U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 426

1.

rs1488619063 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:50054371 (GRCh38)
    3:50091804 (GRCh37)
    Canonical SPDI:
    NC_000003.12:50054370:T:C
    Gene:
    RBM6 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000011/3 (TOPMED)
    HGVS:
    NC_000003.12:g.50054371T>C, NC_000003.11:g.50091804T>C, NM_005777.3:c.1669T>C, NM_005777.2:c.1669T>C, XM_017005496.3:c.1669T>C, XM_017005496.2:c.1669T>C, XM_017005496.1:c.1273T>C, XM_017005497.2:c.214T>C, XM_017005497.1:c.214T>C, NM_001349192.2:c.103T>C, NM_001349192.1:c.103T>C, NM_001349193.2:c.103T>C, NM_001349193.1:c.103T>C, XM_006712916.2:c.1273T>C, XM_006712916.1:c.1273T>C, NM_001349191.2:c.103T>C, NM_001349191.1:c.103T>C, NM_001349190.2:c.103T>C, NM_001349190.1:c.103T>C, NM_001349194.2:c.127T>C, NM_001349194.1:c.127T>C, NM_001167582.2:c.103T>C, NM_001167582.1:c.103T>C, NR_146071.2:n.223T>C, NR_146071.1:n.329T>C, XM_047447131.1:c.1669T>C, XM_047447132.1:c.1669T>C, XM_047447134.1:c.103T>C, XM_047447133.1:c.226T>C, XM_047447137.1:c.*32T>C, XM_047447136.1:c.*32T>C, XM_047447135.1:c.103T>C, NP_005768.1:p.Ser557Pro, XP_016860985.2:p.Ser557Pro, XP_016860986.1:p.Ser72Pro, NP_001336121.1:p.Ser35Pro, NP_001336122.1:p.Ser35Pro, XP_006712979.1:p.Ser425Pro, NP_001336120.1:p.Ser35Pro, NP_001336119.1:p.Ser35Pro, NP_001336123.1:p.Ser43Pro, NP_001161054.1:p.Ser35Pro, XP_047303087.1:p.Ser557Pro, XP_047303088.1:p.Ser557Pro, XP_047303090.1:p.Ser35Pro, XP_047303089.1:p.Ser76Pro, XP_047303091.1:p.Ser35Pro

    2.

    rs1488453040 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:50057773 (GRCh38)
      3:50095206 (GRCh37)
      Canonical SPDI:
      NC_000003.12:50057772:A:G
      Gene:
      RBM6 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.50057773A>G, NC_000003.11:g.50095206A>G, NM_005777.3:c.1739A>G, NM_005777.2:c.1739A>G, XM_017005496.3:c.1739A>G, XM_017005496.2:c.1739A>G, XM_017005496.1:c.1343A>G, XM_017005497.2:c.284A>G, XM_017005497.1:c.284A>G, NM_001349192.2:c.173A>G, NM_001349192.1:c.173A>G, NM_001349193.2:c.173A>G, NM_001349193.1:c.173A>G, XM_006712916.2:c.1343A>G, XM_006712916.1:c.1343A>G, NM_001349191.2:c.173A>G, NM_001349191.1:c.173A>G, NM_001349190.2:c.173A>G, NM_001349190.1:c.173A>G, NM_001349194.2:c.197A>G, NM_001349194.1:c.197A>G, NM_001167582.2:c.173A>G, NM_001167582.1:c.173A>G, NR_146071.2:n.293A>G, NR_146071.1:n.399A>G, XM_047447131.1:c.1739A>G, XM_047447132.1:c.1739A>G, XM_047447134.1:c.173A>G, XM_047447133.1:c.296A>G, XM_047447135.1:c.173A>G, NP_005768.1:p.Lys580Arg, XP_016860985.2:p.Lys580Arg, XP_016860986.1:p.Lys95Arg, NP_001336121.1:p.Lys58Arg, NP_001336122.1:p.Lys58Arg, XP_006712979.1:p.Lys448Arg, NP_001336120.1:p.Lys58Arg, NP_001336119.1:p.Lys58Arg, NP_001336123.1:p.Lys66Arg, NP_001161054.1:p.Lys58Arg, XP_047303087.1:p.Lys580Arg, XP_047303088.1:p.Lys580Arg, XP_047303090.1:p.Lys58Arg, XP_047303089.1:p.Lys99Arg, XP_047303091.1:p.Lys58Arg

      3.

      rs1486512281 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        3:50077105 (GRCh38)
        3:50114538 (GRCh37)
        Canonical SPDI:
        NC_000003.12:50077104:T:A
        Gene:
        RBM6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.50077105T>A, NC_000003.11:g.50114538T>A, NM_005777.3:c.3344T>A, NM_005777.2:c.3344T>A, XM_017005497.2:c.1889T>A, XM_017005497.1:c.1889T>A, NM_001349192.2:c.1778T>A, NM_001349192.1:c.1778T>A, NM_001349193.2:c.1778T>A, NM_001349193.1:c.1778T>A, XM_006712916.2:c.2948T>A, XM_006712916.1:c.2948T>A, NM_001349191.2:c.1778T>A, NM_001349191.1:c.1778T>A, NM_001349190.2:c.1778T>A, NM_001349190.1:c.1778T>A, NM_001349194.2:c.1802T>A, NM_001349194.1:c.1802T>A, NM_001167582.2:c.1778T>A, NM_001167582.1:c.1778T>A, NR_146071.2:n.1898T>A, NR_146071.1:n.2004T>A, XM_047447131.1:c.3344T>A, XM_047447134.1:c.1778T>A, XM_047447133.1:c.1901T>A, XM_047447135.1:c.1778T>A, NP_005768.1:p.Met1115Lys, XP_016860986.1:p.Met630Lys, NP_001336121.1:p.Met593Lys, NP_001336122.1:p.Met593Lys, XP_006712979.1:p.Met983Lys, NP_001336120.1:p.Met593Lys, NP_001336119.1:p.Met593Lys, NP_001336123.1:p.Met601Lys, NP_001161054.1:p.Met593Lys, XP_047303087.1:p.Met1115Lys, XP_047303090.1:p.Met593Lys, XP_047303089.1:p.Met634Lys, XP_047303091.1:p.Met593Lys

        4.

        rs1485644661 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:50066464 (GRCh38)
          3:50103897 (GRCh37)
          Canonical SPDI:
          NC_000003.12:50066463:G:A
          Gene:
          RBM6 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000003.12:g.50066464G>A, NC_000003.11:g.50103897G>A, NM_005777.3:c.2905G>A, NM_005777.2:c.2905G>A, XM_017005497.2:c.1450G>A, XM_017005497.1:c.1450G>A, NM_001349192.2:c.1339G>A, NM_001349192.1:c.1339G>A, NM_001349193.2:c.1339G>A, NM_001349193.1:c.1339G>A, XM_006712916.2:c.2509G>A, XM_006712916.1:c.2509G>A, NM_001349191.2:c.1339G>A, NM_001349191.1:c.1339G>A, NM_001349190.2:c.1339G>A, NM_001349190.1:c.1339G>A, NM_001349194.2:c.1363G>A, NM_001349194.1:c.1363G>A, NM_001167582.2:c.1339G>A, NM_001167582.1:c.1339G>A, NR_146071.2:n.1459G>A, NR_146071.1:n.1565G>A, XM_047447131.1:c.2905G>A, XM_047447132.1:c.2905G>A, XM_047447134.1:c.1339G>A, XM_047447133.1:c.1462G>A, XM_047447135.1:c.1339G>A, NP_005768.1:p.Val969Ile, XP_016860986.1:p.Val484Ile, NP_001336121.1:p.Val447Ile, NP_001336122.1:p.Val447Ile, XP_006712979.1:p.Val837Ile, NP_001336120.1:p.Val447Ile, NP_001336119.1:p.Val447Ile, NP_001336123.1:p.Val455Ile, NP_001161054.1:p.Val447Ile, XP_047303087.1:p.Val969Ile, XP_047303088.1:p.Val969Ile, XP_047303090.1:p.Val447Ile, XP_047303089.1:p.Val488Ile, XP_047303091.1:p.Val447Ile

          5.

          rs1485191513 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:50060963 (GRCh38)
            3:50098396 (GRCh37)
            Canonical SPDI:
            NC_000003.12:50060962:T:C
            Gene:
            RBM6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000014/3 (GnomAD_exomes)
            C=0.000015/4 (TOPMED)
            C=0.000021/3 (GnomAD)
            HGVS:
            NC_000003.12:g.50060963T>C, NC_000003.11:g.50098396T>C, NM_005777.3:c.2236T>C, NM_005777.2:c.2236T>C, XM_017005496.3:c.*81T>C, XM_017005497.2:c.781T>C, XM_017005497.1:c.781T>C, NM_001349192.2:c.670T>C, NM_001349192.1:c.670T>C, NM_001349193.2:c.670T>C, NM_001349193.1:c.670T>C, XM_006712916.2:c.1840T>C, XM_006712916.1:c.1840T>C, NM_001349191.2:c.670T>C, NM_001349191.1:c.670T>C, NM_001349190.2:c.670T>C, NM_001349190.1:c.670T>C, NM_001349194.2:c.694T>C, NM_001349194.1:c.694T>C, NM_001167582.2:c.670T>C, NM_001167582.1:c.670T>C, NR_146071.2:n.790T>C, NR_146071.1:n.896T>C, XM_047447131.1:c.2236T>C, XM_047447132.1:c.2236T>C, XM_047447134.1:c.670T>C, XM_047447133.1:c.793T>C, XM_047447135.1:c.670T>C, NP_005768.1:p.Ser746Pro, XP_016860986.1:p.Ser261Pro, NP_001336121.1:p.Ser224Pro, NP_001336122.1:p.Ser224Pro, XP_006712979.1:p.Ser614Pro, NP_001336120.1:p.Ser224Pro, NP_001336119.1:p.Ser224Pro, NP_001336123.1:p.Ser232Pro, NP_001161054.1:p.Ser224Pro, XP_047303087.1:p.Ser746Pro, XP_047303088.1:p.Ser746Pro, XP_047303090.1:p.Ser224Pro, XP_047303089.1:p.Ser265Pro, XP_047303091.1:p.Ser224Pro

            6.

            rs1476118469 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:50077011 (GRCh38)
              3:50114444 (GRCh37)
              Canonical SPDI:
              NC_000003.12:50077010:G:A
              Gene:
              RBM6 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.50077011G>A, NC_000003.11:g.50114444G>A, NM_005777.3:c.3250G>A, NM_005777.2:c.3250G>A, XM_017005497.2:c.1795G>A, XM_017005497.1:c.1795G>A, NM_001349192.2:c.1684G>A, NM_001349192.1:c.1684G>A, NM_001349193.2:c.1684G>A, NM_001349193.1:c.1684G>A, XM_006712916.2:c.2854G>A, XM_006712916.1:c.2854G>A, NM_001349191.2:c.1684G>A, NM_001349191.1:c.1684G>A, NM_001349190.2:c.1684G>A, NM_001349190.1:c.1684G>A, NM_001349194.2:c.1708G>A, NM_001349194.1:c.1708G>A, NM_001167582.2:c.1684G>A, NM_001167582.1:c.1684G>A, NR_146071.2:n.1804G>A, NR_146071.1:n.1910G>A, XM_047447131.1:c.3250G>A, XM_047447134.1:c.1684G>A, XM_047447133.1:c.1807G>A, XM_047447135.1:c.1684G>A, NP_005768.1:p.Glu1084Lys, XP_016860986.1:p.Glu599Lys, NP_001336121.1:p.Glu562Lys, NP_001336122.1:p.Glu562Lys, XP_006712979.1:p.Glu952Lys, NP_001336120.1:p.Glu562Lys, NP_001336119.1:p.Glu562Lys, NP_001336123.1:p.Glu570Lys, NP_001161054.1:p.Glu562Lys, XP_047303087.1:p.Glu1084Lys, XP_047303090.1:p.Glu562Lys, XP_047303089.1:p.Glu603Lys, XP_047303091.1:p.Glu562Lys

              7.

              rs1475943246 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:50057740 (GRCh38)
                3:50095173 (GRCh37)
                Canonical SPDI:
                NC_000003.12:50057739:A:G
                Gene:
                RBM6 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.50057740A>G, NC_000003.11:g.50095173A>G, NM_005777.3:c.1706A>G, NM_005777.2:c.1706A>G, XM_017005496.3:c.1706A>G, XM_017005496.2:c.1706A>G, XM_017005496.1:c.1310A>G, XM_017005497.2:c.251A>G, XM_017005497.1:c.251A>G, NM_001349192.2:c.140A>G, NM_001349192.1:c.140A>G, NM_001349193.2:c.140A>G, NM_001349193.1:c.140A>G, XM_006712916.2:c.1310A>G, XM_006712916.1:c.1310A>G, NM_001349191.2:c.140A>G, NM_001349191.1:c.140A>G, NM_001349190.2:c.140A>G, NM_001349190.1:c.140A>G, NM_001349194.2:c.164A>G, NM_001349194.1:c.164A>G, NM_001167582.2:c.140A>G, NM_001167582.1:c.140A>G, NR_146071.2:n.260A>G, NR_146071.1:n.366A>G, XM_047447131.1:c.1706A>G, XM_047447132.1:c.1706A>G, XM_047447134.1:c.140A>G, XM_047447133.1:c.263A>G, XM_047447135.1:c.140A>G, NP_005768.1:p.Lys569Arg, XP_016860985.2:p.Lys569Arg, XP_016860986.1:p.Lys84Arg, NP_001336121.1:p.Lys47Arg, NP_001336122.1:p.Lys47Arg, XP_006712979.1:p.Lys437Arg, NP_001336120.1:p.Lys47Arg, NP_001336119.1:p.Lys47Arg, NP_001336123.1:p.Lys55Arg, NP_001161054.1:p.Lys47Arg, XP_047303087.1:p.Lys569Arg, XP_047303088.1:p.Lys569Arg, XP_047303090.1:p.Lys47Arg, XP_047303089.1:p.Lys88Arg, XP_047303091.1:p.Lys47Arg

                8.

                rs1475008267 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  3:50061518 (GRCh38)
                  3:50098951 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:50061517:G:T
                  Gene:
                  RBM6 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000016/4 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.50061518G>T, NC_000003.11:g.50098951G>T, NM_005777.3:c.2410G>T, NM_005777.2:c.2410G>T, XM_017005497.2:c.955G>T, XM_017005497.1:c.955G>T, NM_001349192.2:c.844G>T, NM_001349192.1:c.844G>T, NM_001349193.2:c.844G>T, NM_001349193.1:c.844G>T, XM_006712916.2:c.2014G>T, XM_006712916.1:c.2014G>T, NM_001349191.2:c.844G>T, NM_001349191.1:c.844G>T, NM_001349190.2:c.844G>T, NM_001349190.1:c.844G>T, NM_001349194.2:c.868G>T, NM_001349194.1:c.868G>T, NM_001167582.2:c.844G>T, NM_001167582.1:c.844G>T, NR_146071.2:n.964G>T, NR_146071.1:n.1070G>T, XM_047447131.1:c.2410G>T, XM_047447132.1:c.2410G>T, XM_047447134.1:c.844G>T, XM_047447133.1:c.967G>T, XM_047447135.1:c.844G>T, NP_005768.1:p.Ala804Ser, XP_016860986.1:p.Ala319Ser, NP_001336121.1:p.Ala282Ser, NP_001336122.1:p.Ala282Ser, XP_006712979.1:p.Ala672Ser, NP_001336120.1:p.Ala282Ser, NP_001336119.1:p.Ala282Ser, NP_001336123.1:p.Ala290Ser, NP_001161054.1:p.Ala282Ser, XP_047303087.1:p.Ala804Ser, XP_047303088.1:p.Ala804Ser, XP_047303090.1:p.Ala282Ser, XP_047303089.1:p.Ala323Ser, XP_047303091.1:p.Ala282Ser

                  9.

                  rs1474153876 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:50066453 (GRCh38)
                    3:50103886 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:50066452:C:T
                    Gene:
                    RBM6 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.50066453C>T, NC_000003.11:g.50103886C>T, NM_005777.3:c.2894C>T, NM_005777.2:c.2894C>T, XM_017005497.2:c.1439C>T, XM_017005497.1:c.1439C>T, NM_001349192.2:c.1328C>T, NM_001349192.1:c.1328C>T, NM_001349193.2:c.1328C>T, NM_001349193.1:c.1328C>T, XM_006712916.2:c.2498C>T, XM_006712916.1:c.2498C>T, NM_001349191.2:c.1328C>T, NM_001349191.1:c.1328C>T, NM_001349190.2:c.1328C>T, NM_001349190.1:c.1328C>T, NM_001349194.2:c.1352C>T, NM_001349194.1:c.1352C>T, NM_001167582.2:c.1328C>T, NM_001167582.1:c.1328C>T, NR_146071.2:n.1448C>T, NR_146071.1:n.1554C>T, XM_047447131.1:c.2894C>T, XM_047447132.1:c.2894C>T, XM_047447134.1:c.1328C>T, XM_047447133.1:c.1451C>T, XM_047447135.1:c.1328C>T, NP_005768.1:p.Pro965Leu, XP_016860986.1:p.Pro480Leu, NP_001336121.1:p.Pro443Leu, NP_001336122.1:p.Pro443Leu, XP_006712979.1:p.Pro833Leu, NP_001336120.1:p.Pro443Leu, NP_001336119.1:p.Pro443Leu, NP_001336123.1:p.Pro451Leu, NP_001161054.1:p.Pro443Leu, XP_047303087.1:p.Pro965Leu, XP_047303088.1:p.Pro965Leu, XP_047303090.1:p.Pro443Leu, XP_047303089.1:p.Pro484Leu, XP_047303091.1:p.Pro443Leu

                    10.

                    rs1473439217 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:50077066 (GRCh38)
                      3:50114499 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:50077065:A:G
                      Gene:
                      RBM6 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.50077066A>G, NC_000003.11:g.50114499A>G, NM_005777.3:c.3305A>G, NM_005777.2:c.3305A>G, XM_017005497.2:c.1850A>G, XM_017005497.1:c.1850A>G, NM_001349192.2:c.1739A>G, NM_001349192.1:c.1739A>G, NM_001349193.2:c.1739A>G, NM_001349193.1:c.1739A>G, XM_006712916.2:c.2909A>G, XM_006712916.1:c.2909A>G, NM_001349191.2:c.1739A>G, NM_001349191.1:c.1739A>G, NM_001349190.2:c.1739A>G, NM_001349190.1:c.1739A>G, NM_001349194.2:c.1763A>G, NM_001349194.1:c.1763A>G, NM_001167582.2:c.1739A>G, NM_001167582.1:c.1739A>G, NR_146071.2:n.1859A>G, NR_146071.1:n.1965A>G, XM_047447131.1:c.3305A>G, XM_047447134.1:c.1739A>G, XM_047447133.1:c.1862A>G, XM_047447135.1:c.1739A>G, NP_005768.1:p.Gln1102Arg, XP_016860986.1:p.Gln617Arg, NP_001336121.1:p.Gln580Arg, NP_001336122.1:p.Gln580Arg, XP_006712979.1:p.Gln970Arg, NP_001336120.1:p.Gln580Arg, NP_001336119.1:p.Gln580Arg, NP_001336123.1:p.Gln588Arg, NP_001161054.1:p.Gln580Arg, XP_047303087.1:p.Gln1102Arg, XP_047303090.1:p.Gln580Arg, XP_047303089.1:p.Gln621Arg, XP_047303091.1:p.Gln580Arg

                      11.

                      rs1471978558 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:50070458 (GRCh38)
                        3:50107891 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:50070457:A:G
                        Gene:
                        RBM6 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        G=0.000019/5 (TOPMED)
                        HGVS:
                        NC_000003.12:g.50070458A>G, NC_000003.11:g.50107891A>G, NM_005777.3:c.3022A>G, NM_005777.2:c.3022A>G, XM_017005497.2:c.1567A>G, XM_017005497.1:c.1567A>G, NM_001349192.2:c.1456A>G, NM_001349192.1:c.1456A>G, NM_001349193.2:c.1456A>G, NM_001349193.1:c.1456A>G, XM_006712916.2:c.2626A>G, XM_006712916.1:c.2626A>G, NM_001349191.2:c.1456A>G, NM_001349191.1:c.1456A>G, NM_001349190.2:c.1456A>G, NM_001349190.1:c.1456A>G, NM_001349194.2:c.1480A>G, NM_001349194.1:c.1480A>G, NM_001167582.2:c.1456A>G, NM_001167582.1:c.1456A>G, NR_146071.2:n.1576A>G, NR_146071.1:n.1682A>G, XM_047447131.1:c.3022A>G, XM_047447132.1:c.3022A>G, XM_047447134.1:c.1456A>G, XM_047447133.1:c.1579A>G, XM_047447135.1:c.1456A>G, NP_005768.1:p.Lys1008Glu, XP_016860986.1:p.Lys523Glu, NP_001336121.1:p.Lys486Glu, NP_001336122.1:p.Lys486Glu, XP_006712979.1:p.Lys876Glu, NP_001336120.1:p.Lys486Glu, NP_001336119.1:p.Lys486Glu, NP_001336123.1:p.Lys494Glu, NP_001161054.1:p.Lys486Glu, XP_047303087.1:p.Lys1008Glu, XP_047303088.1:p.Lys1008Glu, XP_047303090.1:p.Lys486Glu, XP_047303089.1:p.Lys527Glu, XP_047303091.1:p.Lys486Glu

                        12.

                        rs1465342927 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:50075217 (GRCh38)
                          3:50112650 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:50075216:G:A
                          Gene:
                          RBM6 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000014/2 (GnomAD)
                          A=0.000019/5 (TOPMED)
                          HGVS:
                          NC_000003.12:g.50075217G>A, NC_000003.11:g.50112650G>A, NM_005777.3:c.3133G>A, NM_005777.2:c.3133G>A, XM_017005497.2:c.1678G>A, XM_017005497.1:c.1678G>A, NM_001349192.2:c.1567G>A, NM_001349192.1:c.1567G>A, NM_001349193.2:c.1567G>A, NM_001349193.1:c.1567G>A, XM_006712916.2:c.2737G>A, XM_006712916.1:c.2737G>A, NM_001349191.2:c.1567G>A, NM_001349191.1:c.1567G>A, NM_001349190.2:c.1567G>A, NM_001349190.1:c.1567G>A, NM_001349194.2:c.1591G>A, NM_001349194.1:c.1591G>A, NM_001167582.2:c.1567G>A, NM_001167582.1:c.1567G>A, NR_146071.2:n.1687G>A, NR_146071.1:n.1793G>A, XM_047447131.1:c.3133G>A, XM_047447134.1:c.1567G>A, XM_047447133.1:c.1690G>A, XM_047447135.1:c.1567G>A, NP_005768.1:p.Asp1045Asn, XP_016860986.1:p.Asp560Asn, NP_001336121.1:p.Asp523Asn, NP_001336122.1:p.Asp523Asn, XP_006712979.1:p.Asp913Asn, NP_001336120.1:p.Asp523Asn, NP_001336119.1:p.Asp523Asn, NP_001336123.1:p.Asp531Asn, NP_001161054.1:p.Asp523Asn, XP_047303087.1:p.Asp1045Asn, XP_047303090.1:p.Asp523Asn, XP_047303089.1:p.Asp564Asn, XP_047303091.1:p.Asp523Asn

                          13.

                          rs1464304616 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            3:50048287 (GRCh38)
                            3:50085720 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:50048286:G:A,NC_000003.12:50048286:G:T
                            Gene:
                            RBM6 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000003.12:g.50048287G>A, NC_000003.12:g.50048287G>T, NC_000003.11:g.50085720G>A, NC_000003.11:g.50085720G>T, NM_005777.3:c.1600G>A, NM_005777.3:c.1600G>T, NM_005777.2:c.1600G>A, NM_005777.2:c.1600G>T, XM_017005496.3:c.1600G>A, XM_017005496.3:c.1600G>T, XM_017005496.2:c.1600G>A, XM_017005496.2:c.1600G>T, XM_017005496.1:c.1204G>A, XM_017005496.1:c.1204G>T, XM_017005497.2:c.145G>A, XM_017005497.2:c.145G>T, XM_017005497.1:c.145G>A, XM_017005497.1:c.145G>T, NM_001349192.2:c.34G>A, NM_001349192.2:c.34G>T, NM_001349192.1:c.34G>A, NM_001349192.1:c.34G>T, NM_001349193.2:c.34G>A, NM_001349193.2:c.34G>T, NM_001349193.1:c.34G>A, NM_001349193.1:c.34G>T, XM_006712916.2:c.1204G>A, XM_006712916.2:c.1204G>T, XM_006712916.1:c.1204G>A, XM_006712916.1:c.1204G>T, NM_001349191.2:c.34G>A, NM_001349191.2:c.34G>T, NM_001349191.1:c.34G>A, NM_001349191.1:c.34G>T, NM_001349190.2:c.34G>A, NM_001349190.2:c.34G>T, NM_001349190.1:c.34G>A, NM_001349190.1:c.34G>T, NM_001349194.2:c.58G>A, NM_001349194.2:c.58G>T, NM_001349194.1:c.58G>A, NM_001349194.1:c.58G>T, NM_001167582.2:c.34G>A, NM_001167582.2:c.34G>T, NM_001167582.1:c.34G>A, NM_001167582.1:c.34G>T, XM_047447131.1:c.1600G>A, XM_047447131.1:c.1600G>T, XM_047447132.1:c.1600G>A, XM_047447132.1:c.1600G>T, XM_047447134.1:c.34G>A, XM_047447134.1:c.34G>T, XM_047447133.1:c.157G>A, XM_047447133.1:c.157G>T, XM_047447137.1:c.1718G>A, XM_047447137.1:c.1718G>T, XM_047447136.1:c.1718G>A, XM_047447136.1:c.1718G>T, XM_047447135.1:c.34G>A, XM_047447135.1:c.34G>T, NP_005768.1:p.Val534Ile, NP_005768.1:p.Val534Leu, XP_016860985.2:p.Val534Ile, XP_016860985.2:p.Val534Leu, XP_016860986.1:p.Val49Ile, XP_016860986.1:p.Val49Leu, NP_001336121.1:p.Val12Ile, NP_001336121.1:p.Val12Leu, NP_001336122.1:p.Val12Ile, NP_001336122.1:p.Val12Leu, XP_006712979.1:p.Val402Ile, XP_006712979.1:p.Val402Leu, NP_001336120.1:p.Val12Ile, NP_001336120.1:p.Val12Leu, NP_001336119.1:p.Val12Ile, NP_001336119.1:p.Val12Leu, NP_001336123.1:p.Val20Ile, NP_001336123.1:p.Val20Leu, NP_001161054.1:p.Val12Ile, NP_001161054.1:p.Val12Leu, XP_047303087.1:p.Val534Ile, XP_047303087.1:p.Val534Leu, XP_047303088.1:p.Val534Ile, XP_047303088.1:p.Val534Leu, XP_047303090.1:p.Val12Ile, XP_047303090.1:p.Val12Leu, XP_047303089.1:p.Val53Ile, XP_047303089.1:p.Val53Leu, XP_047303093.1:p.Cys573Tyr, XP_047303093.1:p.Cys573Phe, XP_047303092.1:p.Cys573Tyr, XP_047303092.1:p.Cys573Phe, XP_047303091.1:p.Val12Ile, XP_047303091.1:p.Val12Leu

                            14.

                            rs1464080833 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              3:50077126 (GRCh38)
                              3:50114559 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:50077125:T:G
                              Gene:
                              RBM6 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000003.12:g.50077126T>G, NC_000003.11:g.50114559T>G, NM_005777.3:c.3365T>G, NM_005777.2:c.3365T>G, XM_017005497.2:c.1910T>G, XM_017005497.1:c.1910T>G, NM_001349192.2:c.1799T>G, NM_001349192.1:c.1799T>G, NM_001349193.2:c.1799T>G, NM_001349193.1:c.1799T>G, XM_006712916.2:c.2969T>G, XM_006712916.1:c.2969T>G, NM_001349191.2:c.1799T>G, NM_001349191.1:c.1799T>G, NM_001349190.2:c.1799T>G, NM_001349190.1:c.1799T>G, NM_001349194.2:c.1823T>G, NM_001349194.1:c.1823T>G, NM_001167582.2:c.1799T>G, NM_001167582.1:c.1799T>G, NR_146071.2:n.1919T>G, NR_146071.1:n.2025T>G, XM_047447131.1:c.3365T>G, XM_047447134.1:c.1799T>G, XM_047447133.1:c.1922T>G, XM_047447135.1:c.1799T>G, NP_005768.1:p.Leu1122Arg, XP_016860986.1:p.Leu637Arg, NP_001336121.1:p.Leu600Arg, NP_001336122.1:p.Leu600Arg, XP_006712979.1:p.Leu990Arg, NP_001336120.1:p.Leu600Arg, NP_001336119.1:p.Leu600Arg, NP_001336123.1:p.Leu608Arg, NP_001161054.1:p.Leu600Arg, XP_047303087.1:p.Leu1122Arg, XP_047303090.1:p.Leu600Arg, XP_047303089.1:p.Leu641Arg, XP_047303091.1:p.Leu600Arg

                              15.

                              rs1463176088 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:50058404 (GRCh38)
                                3:50095837 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:50058403:A:C
                                Gene:
                                RBM6 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,genic_downstream_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_000003.12:g.50058404A>C, NC_000003.11:g.50095837A>C, NM_005777.3:c.1972A>C, NM_005777.2:c.1972A>C, XM_017005496.3:c.1972A>C, XM_017005496.2:c.1972A>C, XM_017005496.1:c.1576A>C, XM_017005497.2:c.517A>C, XM_017005497.1:c.517A>C, NM_001349192.2:c.406A>C, NM_001349192.1:c.406A>C, NM_001349193.2:c.406A>C, NM_001349193.1:c.406A>C, XM_006712916.2:c.1576A>C, XM_006712916.1:c.1576A>C, NM_001349191.2:c.406A>C, NM_001349191.1:c.406A>C, NM_001349190.2:c.406A>C, NM_001349190.1:c.406A>C, NM_001349194.2:c.430A>C, NM_001349194.1:c.430A>C, NM_001167582.2:c.406A>C, NM_001167582.1:c.406A>C, NR_146071.2:n.526A>C, NR_146071.1:n.632A>C, XM_047447131.1:c.1972A>C, XM_047447132.1:c.1972A>C, XM_047447134.1:c.406A>C, XM_047447133.1:c.529A>C, XM_047447135.1:c.406A>C, NP_005768.1:p.Ile658Leu, XP_016860985.2:p.Ile658Leu, XP_016860986.1:p.Ile173Leu, NP_001336121.1:p.Ile136Leu, NP_001336122.1:p.Ile136Leu, XP_006712979.1:p.Ile526Leu, NP_001336120.1:p.Ile136Leu, NP_001336119.1:p.Ile136Leu, NP_001336123.1:p.Ile144Leu, NP_001161054.1:p.Ile136Leu, XP_047303087.1:p.Ile658Leu, XP_047303088.1:p.Ile658Leu, XP_047303090.1:p.Ile136Leu, XP_047303089.1:p.Ile177Leu, XP_047303091.1:p.Ile136Leu

                                16.

                                rs1462376516 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  3:50062043 (GRCh38)
                                  3:50099476 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:50062042:T:G
                                  Gene:
                                  RBM6 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.50062043T>G, NC_000003.11:g.50099476T>G, NM_005777.3:c.2521T>G, NM_005777.2:c.2521T>G, XM_017005497.2:c.1066T>G, XM_017005497.1:c.1066T>G, NM_001349192.2:c.955T>G, NM_001349192.1:c.955T>G, NM_001349193.2:c.955T>G, NM_001349193.1:c.955T>G, XM_006712916.2:c.2125T>G, XM_006712916.1:c.2125T>G, NM_001349191.2:c.955T>G, NM_001349191.1:c.955T>G, NM_001349190.2:c.955T>G, NM_001349190.1:c.955T>G, NM_001349194.2:c.979T>G, NM_001349194.1:c.979T>G, NM_001167582.2:c.955T>G, NM_001167582.1:c.955T>G, NR_146071.2:n.1075T>G, NR_146071.1:n.1181T>G, XM_047447131.1:c.2521T>G, XM_047447132.1:c.2521T>G, XM_047447134.1:c.955T>G, XM_047447133.1:c.1078T>G, XM_047447135.1:c.955T>G, NP_005768.1:p.Ser841Ala, XP_016860986.1:p.Ser356Ala, NP_001336121.1:p.Ser319Ala, NP_001336122.1:p.Ser319Ala, XP_006712979.1:p.Ser709Ala, NP_001336120.1:p.Ser319Ala, NP_001336119.1:p.Ser319Ala, NP_001336123.1:p.Ser327Ala, NP_001161054.1:p.Ser319Ala, XP_047303087.1:p.Ser841Ala, XP_047303088.1:p.Ser841Ala, XP_047303090.1:p.Ser319Ala, XP_047303089.1:p.Ser360Ala, XP_047303091.1:p.Ser319Ala

                                  17.

                                  rs1462031322 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:50070501 (GRCh38)
                                    3:50107934 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:50070500:C:T
                                    Gene:
                                    RBM6 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000003.12:g.50070501C>T, NC_000003.11:g.50107934C>T, NM_005777.3:c.3065C>T, NM_005777.2:c.3065C>T, XM_017005497.2:c.1610C>T, XM_017005497.1:c.1610C>T, NM_001349192.2:c.1499C>T, NM_001349192.1:c.1499C>T, NM_001349193.2:c.1499C>T, NM_001349193.1:c.1499C>T, XM_006712916.2:c.2669C>T, XM_006712916.1:c.2669C>T, NM_001349191.2:c.1499C>T, NM_001349191.1:c.1499C>T, NM_001349190.2:c.1499C>T, NM_001349190.1:c.1499C>T, NM_001349194.2:c.1523C>T, NM_001349194.1:c.1523C>T, NM_001167582.2:c.1499C>T, NM_001167582.1:c.1499C>T, NR_146071.2:n.1619C>T, NR_146071.1:n.1725C>T, XM_047447131.1:c.3065C>T, XM_047447132.1:c.3065C>T, XM_047447134.1:c.1499C>T, XM_047447133.1:c.1622C>T, XM_047447135.1:c.1499C>T, NP_005768.1:p.Ser1022Phe, XP_016860986.1:p.Ser537Phe, NP_001336121.1:p.Ser500Phe, NP_001336122.1:p.Ser500Phe, XP_006712979.1:p.Ser890Phe, NP_001336120.1:p.Ser500Phe, NP_001336119.1:p.Ser500Phe, NP_001336123.1:p.Ser508Phe, NP_001161054.1:p.Ser500Phe, XP_047303087.1:p.Ser1022Phe, XP_047303088.1:p.Ser1022Phe, XP_047303090.1:p.Ser500Phe, XP_047303089.1:p.Ser541Phe, XP_047303091.1:p.Ser500Phe

                                    18.

                                    rs1459476111 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      3:50066348 (GRCh38)
                                      3:50103781 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:50066347:C:G
                                      Gene:
                                      RBM6 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000083/2 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (GnomAD_exomes)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000003.12:g.50066348C>G, NC_000003.11:g.50103781C>G, NM_005777.3:c.2789C>G, NM_005777.2:c.2789C>G, XM_017005497.2:c.1334C>G, XM_017005497.1:c.1334C>G, NM_001349192.2:c.1223C>G, NM_001349192.1:c.1223C>G, NM_001349193.2:c.1223C>G, NM_001349193.1:c.1223C>G, XM_006712916.2:c.2393C>G, XM_006712916.1:c.2393C>G, NM_001349191.2:c.1223C>G, NM_001349191.1:c.1223C>G, NM_001349190.2:c.1223C>G, NM_001349190.1:c.1223C>G, NM_001349194.2:c.1247C>G, NM_001349194.1:c.1247C>G, NM_001167582.2:c.1223C>G, NM_001167582.1:c.1223C>G, NR_146071.2:n.1343C>G, NR_146071.1:n.1449C>G, XM_047447131.1:c.2789C>G, XM_047447132.1:c.2789C>G, XM_047447134.1:c.1223C>G, XM_047447133.1:c.1346C>G, XM_047447135.1:c.1223C>G, NP_005768.1:p.Thr930Arg, XP_016860986.1:p.Thr445Arg, NP_001336121.1:p.Thr408Arg, NP_001336122.1:p.Thr408Arg, XP_006712979.1:p.Thr798Arg, NP_001336120.1:p.Thr408Arg, NP_001336119.1:p.Thr408Arg, NP_001336123.1:p.Thr416Arg, NP_001161054.1:p.Thr408Arg, XP_047303087.1:p.Thr930Arg, XP_047303088.1:p.Thr930Arg, XP_047303090.1:p.Thr408Arg, XP_047303089.1:p.Thr449Arg, XP_047303091.1:p.Thr408Arg

                                      19.

                                      rs1458599461 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        3:50057852 (GRCh38)
                                        3:50095285 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:50057851:G:T
                                        Gene:
                                        RBM6 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.50057852G>T, NC_000003.11:g.50095285G>T, NM_005777.3:c.1818G>T, NM_005777.2:c.1818G>T, XM_017005496.3:c.1818G>T, XM_017005496.2:c.1818G>T, XM_017005496.1:c.1422G>T, XM_017005497.2:c.363G>T, XM_017005497.1:c.363G>T, NM_001349192.2:c.252G>T, NM_001349192.1:c.252G>T, NM_001349193.2:c.252G>T, NM_001349193.1:c.252G>T, XM_006712916.2:c.1422G>T, XM_006712916.1:c.1422G>T, NM_001349191.2:c.252G>T, NM_001349191.1:c.252G>T, NM_001349190.2:c.252G>T, NM_001349190.1:c.252G>T, NM_001349194.2:c.276G>T, NM_001349194.1:c.276G>T, NM_001167582.2:c.252G>T, NM_001167582.1:c.252G>T, NR_146071.2:n.372G>T, NR_146071.1:n.478G>T, XM_047447131.1:c.1818G>T, XM_047447132.1:c.1818G>T, XM_047447134.1:c.252G>T, XM_047447133.1:c.375G>T, XM_047447135.1:c.252G>T, NP_005768.1:p.Lys606Asn, XP_016860985.2:p.Lys606Asn, XP_016860986.1:p.Lys121Asn, NP_001336121.1:p.Lys84Asn, NP_001336122.1:p.Lys84Asn, XP_006712979.1:p.Lys474Asn, NP_001336120.1:p.Lys84Asn, NP_001336119.1:p.Lys84Asn, NP_001336123.1:p.Lys92Asn, NP_001161054.1:p.Lys84Asn, XP_047303087.1:p.Lys606Asn, XP_047303088.1:p.Lys606Asn, XP_047303090.1:p.Lys84Asn, XP_047303089.1:p.Lys125Asn, XP_047303091.1:p.Lys84Asn

                                        20.

                                        rs1456362072 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:50057801 (GRCh38)
                                          3:50095234 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:50057800:A:G
                                          Gene:
                                          RBM6 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...