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Items: 1 to 20 of 858

1.

rs1490747527 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TCT>- [Show Flanks]
    Chromosome:
    1:173983570 (GRCh38)
    1:173952708 (GRCh37)
    Canonical SPDI:
    NC_000001.11:173983561:CTTCTTCTTCT:CTTCTTCT
    Gene:
    RC3H1 (Varview)
    Functional Consequence:
    inframe_deletion,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTTCTTCT=0./0 (ALFA)
    -=0.000008/2 (TOPMED)
    HGVS:
    NC_000001.11:g.173983564TCT[2], NC_000001.10:g.173952702TCT[2], NM_172071.4:c.440AAG[2], NM_172071.3:c.440AAG[2], NM_172071.2:c.440AAG[2], XM_005244921.4:c.440AAG[2], XM_005244921.3:c.440AAG[2], XM_005244921.2:c.440AAG[2], XM_005244921.1:c.440AAG[2], XM_047447089.1:c.440AAG[2], XM_047447092.1:c.440AAG[2], XM_047447094.1:c.440AAG[2], XM_047447097.1:c.440AAG[2], XM_047447101.1:c.440AAG[2], XM_047447102.1:c.440AAG[2], XM_047447090.1:c.440AAG[2], XM_047447091.1:c.440AAG[2], XM_047447103.1:c.440AAG[2], XM_047447105.1:c.440AAG[2], XM_047447093.1:c.440AAG[2], XM_047447095.1:c.440AAG[2], XM_047447096.1:c.440AAG[2], XM_047447106.1:c.440AAG[2], NM_001300850.1:c.440AAG[2], XM_047447104.1:c.440AAG[2], NM_001300851.1:c.440AAG[2], NM_001300852.1:c.440AAG[2], NP_742068.1:p.Glu149del, XP_005244978.1:p.Glu149del, XP_047303045.1:p.Glu149del, XP_047303048.1:p.Glu149del, XP_047303050.1:p.Glu149del, XP_047303053.1:p.Glu149del, XP_047303057.1:p.Glu149del, XP_047303058.1:p.Glu149del, XP_047303046.1:p.Glu149del, XP_047303047.1:p.Glu149del, XP_047303059.1:p.Glu149del, XP_047303061.1:p.Glu149del, XP_047303049.1:p.Glu149del, XP_047303051.1:p.Glu149del, XP_047303052.1:p.Glu149del, XP_047303062.1:p.Glu149del, NP_001287779.1:p.Glu149del, XP_047303060.1:p.Glu149del, NP_001287780.1:p.Glu149del, NP_001287781.1:p.Glu149del

    2.

    rs1489931027 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:173982828 (GRCh38)
      1:173951966 (GRCh37)
      Canonical SPDI:
      NC_000001.11:173982827:C:T
      Gene:
      RC3H1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.173982828C>T, NC_000001.10:g.173951966C>T, NM_172071.4:c.667G>A, NM_172071.3:c.667G>A, NM_172071.2:c.667G>A, XM_005244921.4:c.667G>A, XM_005244921.3:c.667G>A, XM_005244921.2:c.667G>A, XM_005244921.1:c.667G>A, XM_047447089.1:c.667G>A, XM_047447092.1:c.667G>A, XM_047447094.1:c.667G>A, XM_047447097.1:c.667G>A, XM_047447101.1:c.667G>A, XM_047447102.1:c.667G>A, XM_047447090.1:c.667G>A, XM_047447091.1:c.667G>A, XM_047447103.1:c.667G>A, XM_047447105.1:c.667G>A, XM_047447093.1:c.667G>A, XM_047447095.1:c.667G>A, XM_047447096.1:c.667G>A, XM_047447106.1:c.667G>A, NM_001300850.1:c.667G>A, XM_047447104.1:c.667G>A, NM_001300851.1:c.667G>A, NM_001300852.1:c.667G>A, NP_742068.1:p.Val223Ile, XP_005244978.1:p.Val223Ile, XP_047303045.1:p.Val223Ile, XP_047303048.1:p.Val223Ile, XP_047303050.1:p.Val223Ile, XP_047303053.1:p.Val223Ile, XP_047303057.1:p.Val223Ile, XP_047303058.1:p.Val223Ile, XP_047303046.1:p.Val223Ile, XP_047303047.1:p.Val223Ile, XP_047303059.1:p.Val223Ile, XP_047303061.1:p.Val223Ile, XP_047303049.1:p.Val223Ile, XP_047303051.1:p.Val223Ile, XP_047303052.1:p.Val223Ile, XP_047303062.1:p.Val223Ile, NP_001287779.1:p.Val223Ile, XP_047303060.1:p.Val223Ile, NP_001287780.1:p.Val223Ile, NP_001287781.1:p.Val223Ile

      3.

      rs1489412552 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:173962091 (GRCh38)
        1:173931229 (GRCh37)
        Canonical SPDI:
        NC_000001.11:173962090:C:T
        Gene:
        RC3H1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.173962091C>T, NC_000001.10:g.173931229C>T, NM_172071.4:c.1836G>A, NM_172071.3:c.1836G>A, NM_172071.2:c.1836G>A, XM_005244921.4:c.1773G>A, XM_005244921.3:c.1773G>A, XM_005244921.2:c.1773G>A, XM_005244921.1:c.1773G>A, XM_047447089.1:c.1836G>A, XM_047447092.1:c.1836G>A, XM_047447094.1:c.1836G>A, XM_047447097.1:c.1773G>A, XM_047447101.1:c.1773G>A, XM_047447102.1:c.1773G>A, XM_047447090.1:c.1836G>A, XM_047447091.1:c.1836G>A, XM_047447103.1:c.1836G>A, XM_047447105.1:c.1836G>A, XM_047447093.1:c.1836G>A, XM_047447095.1:c.1836G>A, XM_047447096.1:c.1773G>A, XM_047447106.1:c.1773G>A, NM_001300850.1:c.1836G>A, XM_047447104.1:c.1836G>A, NM_001300851.1:c.1836G>A, NM_001300852.1:c.1836G>A, NP_742068.1:p.Met612Ile, XP_005244978.1:p.Met591Ile, XP_047303045.1:p.Met612Ile, XP_047303048.1:p.Met612Ile, XP_047303050.1:p.Met612Ile, XP_047303053.1:p.Met591Ile, XP_047303057.1:p.Met591Ile, XP_047303058.1:p.Met591Ile, XP_047303046.1:p.Met612Ile, XP_047303047.1:p.Met612Ile, XP_047303059.1:p.Met612Ile, XP_047303061.1:p.Met612Ile, XP_047303049.1:p.Met612Ile, XP_047303051.1:p.Met612Ile, XP_047303052.1:p.Met591Ile, XP_047303062.1:p.Met591Ile, NP_001287779.1:p.Met612Ile, XP_047303060.1:p.Met612Ile, NP_001287780.1:p.Met612Ile, NP_001287781.1:p.Met612Ile

        4.

        rs1488456314 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:173962008 (GRCh38)
          1:173931146 (GRCh37)
          Canonical SPDI:
          NC_000001.11:173962007:T:C
          Gene:
          RC3H1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.173962008T>C, NC_000001.10:g.173931146T>C, NM_172071.4:c.1919A>G, NM_172071.3:c.1919A>G, NM_172071.2:c.1919A>G, XM_005244921.4:c.1856A>G, XM_005244921.3:c.1856A>G, XM_005244921.2:c.1856A>G, XM_005244921.1:c.1856A>G, XM_047447089.1:c.1919A>G, XM_047447092.1:c.1919A>G, XM_047447094.1:c.1919A>G, XM_047447097.1:c.1856A>G, XM_047447101.1:c.1856A>G, XM_047447102.1:c.1856A>G, XM_047447090.1:c.1919A>G, XM_047447091.1:c.1919A>G, XM_047447103.1:c.1919A>G, XM_047447105.1:c.1919A>G, XM_047447093.1:c.1919A>G, XM_047447095.1:c.1919A>G, XM_047447096.1:c.1856A>G, XM_047447106.1:c.1856A>G, NM_001300850.1:c.1919A>G, XM_047447104.1:c.1919A>G, NM_001300851.1:c.1919A>G, NM_001300852.1:c.1919A>G, NP_742068.1:p.Asp640Gly, XP_005244978.1:p.Asp619Gly, XP_047303045.1:p.Asp640Gly, XP_047303048.1:p.Asp640Gly, XP_047303050.1:p.Asp640Gly, XP_047303053.1:p.Asp619Gly, XP_047303057.1:p.Asp619Gly, XP_047303058.1:p.Asp619Gly, XP_047303046.1:p.Asp640Gly, XP_047303047.1:p.Asp640Gly, XP_047303059.1:p.Asp640Gly, XP_047303061.1:p.Asp640Gly, XP_047303049.1:p.Asp640Gly, XP_047303051.1:p.Asp640Gly, XP_047303052.1:p.Asp619Gly, XP_047303062.1:p.Asp619Gly, NP_001287779.1:p.Asp640Gly, XP_047303060.1:p.Asp640Gly, NP_001287780.1:p.Asp640Gly, NP_001287781.1:p.Asp640Gly

          5.

          rs1487390883 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:173992943 (GRCh38)
            1:173962081 (GRCh37)
            Canonical SPDI:
            NC_000001.11:173992942:G:C
            Gene:
            RC3H1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.173992943G>C, NC_000001.10:g.173962081G>C, NM_172071.4:c.43C>G, NM_172071.3:c.43C>G, NM_172071.2:c.43C>G, XM_005244921.4:c.43C>G, XM_005244921.3:c.43C>G, XM_005244921.2:c.43C>G, XM_005244921.1:c.43C>G, XM_047447089.1:c.43C>G, XM_047447092.1:c.43C>G, XM_047447094.1:c.43C>G, XM_047447097.1:c.43C>G, XM_047447101.1:c.43C>G, XM_047447102.1:c.43C>G, XM_047447090.1:c.43C>G, XM_047447091.1:c.43C>G, XM_047447103.1:c.43C>G, XM_047447105.1:c.43C>G, XM_047447093.1:c.43C>G, XM_047447095.1:c.43C>G, XM_047447096.1:c.43C>G, XM_047447106.1:c.43C>G, NM_001300850.1:c.43C>G, XM_047447104.1:c.43C>G, NM_001300851.1:c.43C>G, NM_001300852.1:c.43C>G, NP_742068.1:p.Pro15Ala, XP_005244978.1:p.Pro15Ala, XP_047303045.1:p.Pro15Ala, XP_047303048.1:p.Pro15Ala, XP_047303050.1:p.Pro15Ala, XP_047303053.1:p.Pro15Ala, XP_047303057.1:p.Pro15Ala, XP_047303058.1:p.Pro15Ala, XP_047303046.1:p.Pro15Ala, XP_047303047.1:p.Pro15Ala, XP_047303059.1:p.Pro15Ala, XP_047303061.1:p.Pro15Ala, XP_047303049.1:p.Pro15Ala, XP_047303051.1:p.Pro15Ala, XP_047303052.1:p.Pro15Ala, XP_047303062.1:p.Pro15Ala, NP_001287779.1:p.Pro15Ala, XP_047303060.1:p.Pro15Ala, NP_001287780.1:p.Pro15Ala, NP_001287781.1:p.Pro15Ala

            6.

            rs1487259099 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              1:173972536 (GRCh38)
              1:173941674 (GRCh37)
              Canonical SPDI:
              NC_000001.11:173972535:G:A,NC_000001.11:173972535:G:T
              Gene:
              RC3H1 (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.00011/1 (ALFA)
              A=0.00014/4 (TOMMO)
              HGVS:
              NC_000001.11:g.173972536G>A, NC_000001.11:g.173972536G>T, NC_000001.10:g.173941674G>A, NC_000001.10:g.173941674G>T, NM_172071.4:c.1194C>T, NM_172071.4:c.1194C>A, NM_172071.3:c.1194C>T, NM_172071.3:c.1194C>A, NM_172071.2:c.1194C>T, NM_172071.2:c.1194C>A, XM_005244921.4:c.1194C>T, XM_005244921.4:c.1194C>A, XM_005244921.3:c.1194C>T, XM_005244921.3:c.1194C>A, XM_005244921.2:c.1194C>T, XM_005244921.2:c.1194C>A, XM_005244921.1:c.1194C>T, XM_005244921.1:c.1194C>A, XM_047447089.1:c.1194C>T, XM_047447089.1:c.1194C>A, XM_047447092.1:c.1194C>T, XM_047447092.1:c.1194C>A, XM_047447094.1:c.1194C>T, XM_047447094.1:c.1194C>A, XM_047447097.1:c.1194C>T, XM_047447097.1:c.1194C>A, XM_047447101.1:c.1194C>T, XM_047447101.1:c.1194C>A, XM_047447102.1:c.1194C>T, XM_047447102.1:c.1194C>A, XM_047447090.1:c.1194C>T, XM_047447090.1:c.1194C>A, XM_047447091.1:c.1194C>T, XM_047447091.1:c.1194C>A, XM_047447103.1:c.1194C>T, XM_047447103.1:c.1194C>A, XM_047447105.1:c.1194C>T, XM_047447105.1:c.1194C>A, XM_047447093.1:c.1194C>T, XM_047447093.1:c.1194C>A, XM_047447095.1:c.1194C>T, XM_047447095.1:c.1194C>A, XM_047447096.1:c.1194C>T, XM_047447096.1:c.1194C>A, XM_047447106.1:c.1194C>T, XM_047447106.1:c.1194C>A, NM_001300850.1:c.1194C>T, NM_001300850.1:c.1194C>A, XM_047447104.1:c.1194C>T, XM_047447104.1:c.1194C>A, NM_001300851.1:c.1194C>T, NM_001300851.1:c.1194C>A, NM_001300852.1:c.1194C>T, NM_001300852.1:c.1194C>A, NP_742068.1:p.His398Gln, XP_005244978.1:p.His398Gln, XP_047303045.1:p.His398Gln, XP_047303048.1:p.His398Gln, XP_047303050.1:p.His398Gln, XP_047303053.1:p.His398Gln, XP_047303057.1:p.His398Gln, XP_047303058.1:p.His398Gln, XP_047303046.1:p.His398Gln, XP_047303047.1:p.His398Gln, XP_047303059.1:p.His398Gln, XP_047303061.1:p.His398Gln, XP_047303049.1:p.His398Gln, XP_047303051.1:p.His398Gln, XP_047303052.1:p.His398Gln, XP_047303062.1:p.His398Gln, NP_001287779.1:p.His398Gln, XP_047303060.1:p.His398Gln, NP_001287780.1:p.His398Gln, NP_001287781.1:p.His398Gln

              7.

              rs1486936389 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:173938867 (GRCh38)
                1:173908005 (GRCh37)
                Canonical SPDI:
                NC_000001.11:173938866:C:T
                Gene:
                RC3H1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.173938867C>T, NC_000001.10:g.173908005C>T, NM_172071.4:c.3256G>A, NM_172071.3:c.3256G>A, NM_172071.2:c.3256G>A, XM_005244921.4:c.3196G>A, XM_005244921.3:c.3196G>A, XM_005244921.2:c.3196G>A, XM_005244921.1:c.3196G>A, XM_047447089.1:c.3259G>A, XM_047447092.1:c.3232G>A, XM_047447094.1:c.3229G>A, XM_047447097.1:c.3193G>A, XM_047447101.1:c.3169G>A, XM_047447102.1:c.3166G>A, XM_047447090.1:c.3259G>A, XM_047447091.1:c.3256G>A, XM_047447103.1:c.3085G>A, XM_047447105.1:c.3082G>A, XM_047447093.1:c.3232G>A, XM_047447095.1:c.3229G>A, XM_047447096.1:c.3196G>A, XM_047447106.1:c.3019G>A, NM_001300850.1:c.3259G>A, XM_047447104.1:c.3085G>A, NM_001300851.1:c.3232G>A, NM_001300852.1:c.3229G>A, NP_742068.1:p.Val1086Ile, XP_005244978.1:p.Val1066Ile, XP_047303045.1:p.Val1087Ile, XP_047303048.1:p.Val1078Ile, XP_047303050.1:p.Val1077Ile, XP_047303053.1:p.Val1065Ile, XP_047303057.1:p.Val1057Ile, XP_047303058.1:p.Val1056Ile, XP_047303046.1:p.Val1087Ile, XP_047303047.1:p.Val1086Ile, XP_047303059.1:p.Val1029Ile, XP_047303061.1:p.Val1028Ile, XP_047303049.1:p.Val1078Ile, XP_047303051.1:p.Val1077Ile, XP_047303052.1:p.Val1066Ile, XP_047303062.1:p.Val1007Ile, NP_001287779.1:p.Val1087Ile, XP_047303060.1:p.Val1029Ile, NP_001287780.1:p.Val1078Ile, NP_001287781.1:p.Val1077Ile

                8.

                rs1485537695 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  1:173946489 (GRCh38)
                  1:173915627 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:173946488:A:C,NC_000001.11:173946488:A:G
                  Gene:
                  RC3H1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000054/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  NC_000001.11:g.173946489A>C, NC_000001.11:g.173946489A>G, NC_000001.10:g.173915627A>C, NC_000001.10:g.173915627A>G, NM_172071.4:c.2948T>G, NM_172071.4:c.2948T>C, NM_172071.3:c.2948T>G, NM_172071.3:c.2948T>C, NM_172071.2:c.2948T>G, NM_172071.2:c.2948T>C, XM_005244921.4:c.2885T>G, XM_005244921.4:c.2885T>C, XM_005244921.3:c.2885T>G, XM_005244921.3:c.2885T>C, XM_005244921.2:c.2885T>G, XM_005244921.2:c.2885T>C, XM_005244921.1:c.2885T>G, XM_005244921.1:c.2885T>C, XM_047447089.1:c.2948T>G, XM_047447089.1:c.2948T>C, XM_047447092.1:c.2948T>G, XM_047447092.1:c.2948T>C, XM_047447094.1:c.2948T>G, XM_047447094.1:c.2948T>C, XM_047447097.1:c.2885T>G, XM_047447097.1:c.2885T>C, XM_047447101.1:c.2885T>G, XM_047447101.1:c.2885T>C, XM_047447102.1:c.2885T>G, XM_047447102.1:c.2885T>C, XM_047447090.1:c.2948T>G, XM_047447090.1:c.2948T>C, XM_047447091.1:c.2948T>G, XM_047447091.1:c.2948T>C, XM_047447103.1:c.2948T>G, XM_047447103.1:c.2948T>C, XM_047447105.1:c.2948T>G, XM_047447105.1:c.2948T>C, XM_047447093.1:c.2948T>G, XM_047447093.1:c.2948T>C, XM_047447095.1:c.2948T>G, XM_047447095.1:c.2948T>C, XM_047447096.1:c.2885T>G, XM_047447096.1:c.2885T>C, XM_047447106.1:c.2885T>G, XM_047447106.1:c.2885T>C, NM_001300850.1:c.2948T>G, NM_001300850.1:c.2948T>C, XM_047447104.1:c.2948T>G, XM_047447104.1:c.2948T>C, NM_001300851.1:c.2948T>G, NM_001300851.1:c.2948T>C, NM_001300852.1:c.2948T>G, NM_001300852.1:c.2948T>C, NP_742068.1:p.Leu983Arg, NP_742068.1:p.Leu983Pro, XP_005244978.1:p.Leu962Arg, XP_005244978.1:p.Leu962Pro, XP_047303045.1:p.Leu983Arg, XP_047303045.1:p.Leu983Pro, XP_047303048.1:p.Leu983Arg, XP_047303048.1:p.Leu983Pro, XP_047303050.1:p.Leu983Arg, XP_047303050.1:p.Leu983Pro, XP_047303053.1:p.Leu962Arg, XP_047303053.1:p.Leu962Pro, XP_047303057.1:p.Leu962Arg, XP_047303057.1:p.Leu962Pro, XP_047303058.1:p.Leu962Arg, XP_047303058.1:p.Leu962Pro, XP_047303046.1:p.Leu983Arg, XP_047303046.1:p.Leu983Pro, XP_047303047.1:p.Leu983Arg, XP_047303047.1:p.Leu983Pro, XP_047303059.1:p.Leu983Arg, XP_047303059.1:p.Leu983Pro, XP_047303061.1:p.Leu983Arg, XP_047303061.1:p.Leu983Pro, XP_047303049.1:p.Leu983Arg, XP_047303049.1:p.Leu983Pro, XP_047303051.1:p.Leu983Arg, XP_047303051.1:p.Leu983Pro, XP_047303052.1:p.Leu962Arg, XP_047303052.1:p.Leu962Pro, XP_047303062.1:p.Leu962Arg, XP_047303062.1:p.Leu962Pro, NP_001287779.1:p.Leu983Arg, NP_001287779.1:p.Leu983Pro, XP_047303060.1:p.Leu983Arg, XP_047303060.1:p.Leu983Pro, NP_001287780.1:p.Leu983Arg, NP_001287780.1:p.Leu983Pro, NP_001287781.1:p.Leu983Arg, NP_001287781.1:p.Leu983Pro

                  9.

                  rs1481004196 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:173983576 (GRCh38)
                    1:173952714 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:173983575:A:G
                    Gene:
                    RC3H1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.173983576A>G, NC_000001.10:g.173952714A>G, NM_172071.4:c.434T>C, NM_172071.3:c.434T>C, NM_172071.2:c.434T>C, XM_005244921.4:c.434T>C, XM_005244921.3:c.434T>C, XM_005244921.2:c.434T>C, XM_005244921.1:c.434T>C, XM_047447089.1:c.434T>C, XM_047447092.1:c.434T>C, XM_047447094.1:c.434T>C, XM_047447097.1:c.434T>C, XM_047447101.1:c.434T>C, XM_047447102.1:c.434T>C, XM_047447090.1:c.434T>C, XM_047447091.1:c.434T>C, XM_047447103.1:c.434T>C, XM_047447105.1:c.434T>C, XM_047447093.1:c.434T>C, XM_047447095.1:c.434T>C, XM_047447096.1:c.434T>C, XM_047447106.1:c.434T>C, NM_001300850.1:c.434T>C, XM_047447104.1:c.434T>C, NM_001300851.1:c.434T>C, NM_001300852.1:c.434T>C, NP_742068.1:p.Leu145Pro, XP_005244978.1:p.Leu145Pro, XP_047303045.1:p.Leu145Pro, XP_047303048.1:p.Leu145Pro, XP_047303050.1:p.Leu145Pro, XP_047303053.1:p.Leu145Pro, XP_047303057.1:p.Leu145Pro, XP_047303058.1:p.Leu145Pro, XP_047303046.1:p.Leu145Pro, XP_047303047.1:p.Leu145Pro, XP_047303059.1:p.Leu145Pro, XP_047303061.1:p.Leu145Pro, XP_047303049.1:p.Leu145Pro, XP_047303051.1:p.Leu145Pro, XP_047303052.1:p.Leu145Pro, XP_047303062.1:p.Leu145Pro, NP_001287779.1:p.Leu145Pro, XP_047303060.1:p.Leu145Pro, NP_001287780.1:p.Leu145Pro, NP_001287781.1:p.Leu145Pro

                    10.

                    rs1480681030 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:173984502 (GRCh38)
                      1:173953640 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:173984501:T:C
                      Gene:
                      RC3H1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.173984502T>C, NC_000001.10:g.173953640T>C, NM_172071.4:c.349A>G, NM_172071.3:c.349A>G, NM_172071.2:c.349A>G, XM_005244921.4:c.349A>G, XM_005244921.3:c.349A>G, XM_005244921.2:c.349A>G, XM_005244921.1:c.349A>G, XM_047447089.1:c.349A>G, XM_047447092.1:c.349A>G, XM_047447094.1:c.349A>G, XM_047447097.1:c.349A>G, XM_047447101.1:c.349A>G, XM_047447102.1:c.349A>G, XM_047447090.1:c.349A>G, XM_047447091.1:c.349A>G, XM_047447103.1:c.349A>G, XM_047447105.1:c.349A>G, XM_047447093.1:c.349A>G, XM_047447095.1:c.349A>G, XM_047447096.1:c.349A>G, XM_047447106.1:c.349A>G, NM_001300850.1:c.349A>G, XM_047447104.1:c.349A>G, NM_001300851.1:c.349A>G, NM_001300852.1:c.349A>G, NP_742068.1:p.Arg117Gly, XP_005244978.1:p.Arg117Gly, XP_047303045.1:p.Arg117Gly, XP_047303048.1:p.Arg117Gly, XP_047303050.1:p.Arg117Gly, XP_047303053.1:p.Arg117Gly, XP_047303057.1:p.Arg117Gly, XP_047303058.1:p.Arg117Gly, XP_047303046.1:p.Arg117Gly, XP_047303047.1:p.Arg117Gly, XP_047303059.1:p.Arg117Gly, XP_047303061.1:p.Arg117Gly, XP_047303049.1:p.Arg117Gly, XP_047303051.1:p.Arg117Gly, XP_047303052.1:p.Arg117Gly, XP_047303062.1:p.Arg117Gly, NP_001287779.1:p.Arg117Gly, XP_047303060.1:p.Arg117Gly, NP_001287780.1:p.Arg117Gly, NP_001287781.1:p.Arg117Gly

                      11.

                      rs1480454107 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:173946494 (GRCh38)
                        1:173915632 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:173946493:G:C
                        Gene:
                        RC3H1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000043/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        C=0.000016/4 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1478891202 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:173952095 (GRCh38)
                          1:173921233 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:173952094:T:C
                          Gene:
                          RC3H1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000022/3 (GnomAD)
                          HGVS:
                          NC_000001.11:g.173952095T>C, NC_000001.10:g.173921233T>C, NM_172071.4:c.2414A>G, NM_172071.3:c.2414A>G, NM_172071.2:c.2414A>G, XM_005244921.4:c.2351A>G, XM_005244921.3:c.2351A>G, XM_005244921.2:c.2351A>G, XM_005244921.1:c.2351A>G, XM_047447089.1:c.2414A>G, XM_047447092.1:c.2414A>G, XM_047447094.1:c.2414A>G, XM_047447097.1:c.2351A>G, XM_047447101.1:c.2351A>G, XM_047447102.1:c.2351A>G, XM_047447090.1:c.2414A>G, XM_047447091.1:c.2414A>G, XM_047447103.1:c.2414A>G, XM_047447105.1:c.2414A>G, XM_047447093.1:c.2414A>G, XM_047447095.1:c.2414A>G, XM_047447096.1:c.2351A>G, XM_047447106.1:c.2351A>G, NM_001300850.1:c.2414A>G, XM_047447104.1:c.2414A>G, NM_001300851.1:c.2414A>G, NM_001300852.1:c.2414A>G, NP_742068.1:p.Asn805Ser, XP_005244978.1:p.Asn784Ser, XP_047303045.1:p.Asn805Ser, XP_047303048.1:p.Asn805Ser, XP_047303050.1:p.Asn805Ser, XP_047303053.1:p.Asn784Ser, XP_047303057.1:p.Asn784Ser, XP_047303058.1:p.Asn784Ser, XP_047303046.1:p.Asn805Ser, XP_047303047.1:p.Asn805Ser, XP_047303059.1:p.Asn805Ser, XP_047303061.1:p.Asn805Ser, XP_047303049.1:p.Asn805Ser, XP_047303051.1:p.Asn805Ser, XP_047303052.1:p.Asn784Ser, XP_047303062.1:p.Asn784Ser, NP_001287779.1:p.Asn805Ser, XP_047303060.1:p.Asn805Ser, NP_001287780.1:p.Asn805Ser, NP_001287781.1:p.Asn805Ser

                          13.

                          rs1477829548 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:173964989 (GRCh38)
                            1:173934127 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:173964988:T:C
                            Gene:
                            RC3H1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.173964989T>C, NC_000001.10:g.173934127T>C, NM_172071.4:c.1466A>G, NM_172071.3:c.1466A>G, NM_172071.2:c.1466A>G, XM_005244921.4:c.1466A>G, XM_005244921.3:c.1466A>G, XM_005244921.2:c.1466A>G, XM_005244921.1:c.1466A>G, XM_047447089.1:c.1466A>G, XM_047447092.1:c.1466A>G, XM_047447094.1:c.1466A>G, XM_047447097.1:c.1466A>G, XM_047447101.1:c.1466A>G, XM_047447102.1:c.1466A>G, XM_047447090.1:c.1466A>G, XM_047447091.1:c.1466A>G, XM_047447103.1:c.1466A>G, XM_047447105.1:c.1466A>G, XM_047447093.1:c.1466A>G, XM_047447095.1:c.1466A>G, XM_047447096.1:c.1466A>G, XM_047447106.1:c.1466A>G, NM_001300850.1:c.1466A>G, XM_047447104.1:c.1466A>G, NM_001300851.1:c.1466A>G, NM_001300852.1:c.1466A>G, NP_742068.1:p.Lys489Arg, XP_005244978.1:p.Lys489Arg, XP_047303045.1:p.Lys489Arg, XP_047303048.1:p.Lys489Arg, XP_047303050.1:p.Lys489Arg, XP_047303053.1:p.Lys489Arg, XP_047303057.1:p.Lys489Arg, XP_047303058.1:p.Lys489Arg, XP_047303046.1:p.Lys489Arg, XP_047303047.1:p.Lys489Arg, XP_047303059.1:p.Lys489Arg, XP_047303061.1:p.Lys489Arg, XP_047303049.1:p.Lys489Arg, XP_047303051.1:p.Lys489Arg, XP_047303052.1:p.Lys489Arg, XP_047303062.1:p.Lys489Arg, NP_001287779.1:p.Lys489Arg, XP_047303060.1:p.Lys489Arg, NP_001287780.1:p.Lys489Arg, NP_001287781.1:p.Lys489Arg

                            14.

                            rs1476698402 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              1:173965106 (GRCh38)
                              1:173934244 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:173965105:T:A
                              Gene:
                              RC3H1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000047/1 (ALFA)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.173965106T>A, NC_000001.10:g.173934244T>A, NM_172071.4:c.1349A>T, NM_172071.3:c.1349A>T, NM_172071.2:c.1349A>T, XM_005244921.4:c.1349A>T, XM_005244921.3:c.1349A>T, XM_005244921.2:c.1349A>T, XM_005244921.1:c.1349A>T, XM_047447089.1:c.1349A>T, XM_047447092.1:c.1349A>T, XM_047447094.1:c.1349A>T, XM_047447097.1:c.1349A>T, XM_047447101.1:c.1349A>T, XM_047447102.1:c.1349A>T, XM_047447090.1:c.1349A>T, XM_047447091.1:c.1349A>T, XM_047447103.1:c.1349A>T, XM_047447105.1:c.1349A>T, XM_047447093.1:c.1349A>T, XM_047447095.1:c.1349A>T, XM_047447096.1:c.1349A>T, XM_047447106.1:c.1349A>T, NM_001300850.1:c.1349A>T, XM_047447104.1:c.1349A>T, NM_001300851.1:c.1349A>T, NM_001300852.1:c.1349A>T, NP_742068.1:p.Asn450Ile, XP_005244978.1:p.Asn450Ile, XP_047303045.1:p.Asn450Ile, XP_047303048.1:p.Asn450Ile, XP_047303050.1:p.Asn450Ile, XP_047303053.1:p.Asn450Ile, XP_047303057.1:p.Asn450Ile, XP_047303058.1:p.Asn450Ile, XP_047303046.1:p.Asn450Ile, XP_047303047.1:p.Asn450Ile, XP_047303059.1:p.Asn450Ile, XP_047303061.1:p.Asn450Ile, XP_047303049.1:p.Asn450Ile, XP_047303051.1:p.Asn450Ile, XP_047303052.1:p.Asn450Ile, XP_047303062.1:p.Asn450Ile, NP_001287779.1:p.Asn450Ile, XP_047303060.1:p.Asn450Ile, NP_001287780.1:p.Asn450Ile, NP_001287781.1:p.Asn450Ile

                              15.

                              rs1475449150 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G,T [Show Flanks]
                                Chromosome:
                                1:173946751 (GRCh38)
                                1:173915889 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:173946750:A:C,NC_000001.11:173946750:A:G,NC_000001.11:173946750:A:T
                                Gene:
                                RC3H1 (Varview)
                                Functional Consequence:
                                synonymous_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.00004/1 (TOMMO)
                                HGVS:
                                NC_000001.11:g.173946751A>C, NC_000001.11:g.173946751A>G, NC_000001.11:g.173946751A>T, NC_000001.10:g.173915889A>C, NC_000001.10:g.173915889A>G, NC_000001.10:g.173915889A>T, NG_082248.1:g.89A>C, NG_082248.1:g.89A>G, NG_082248.1:g.89A>T, NM_172071.4:c.2823T>G, NM_172071.4:c.2823T>C, NM_172071.4:c.2823T>A, NM_172071.3:c.2823T>G, NM_172071.3:c.2823T>C, NM_172071.3:c.2823T>A, NM_172071.2:c.2823T>G, NM_172071.2:c.2823T>C, NM_172071.2:c.2823T>A, XM_005244921.4:c.2760T>G, XM_005244921.4:c.2760T>C, XM_005244921.4:c.2760T>A, XM_005244921.3:c.2760T>G, XM_005244921.3:c.2760T>C, XM_005244921.3:c.2760T>A, XM_005244921.2:c.2760T>G, XM_005244921.2:c.2760T>C, XM_005244921.2:c.2760T>A, XM_005244921.1:c.2760T>G, XM_005244921.1:c.2760T>C, XM_005244921.1:c.2760T>A, XM_047447089.1:c.2823T>G, XM_047447089.1:c.2823T>C, XM_047447089.1:c.2823T>A, XM_047447092.1:c.2823T>G, XM_047447092.1:c.2823T>C, XM_047447092.1:c.2823T>A, XM_047447094.1:c.2823T>G, XM_047447094.1:c.2823T>C, XM_047447094.1:c.2823T>A, XM_047447097.1:c.2760T>G, XM_047447097.1:c.2760T>C, XM_047447097.1:c.2760T>A, XM_047447101.1:c.2760T>G, XM_047447101.1:c.2760T>C, XM_047447101.1:c.2760T>A, XM_047447102.1:c.2760T>G, XM_047447102.1:c.2760T>C, XM_047447102.1:c.2760T>A, XM_047447090.1:c.2823T>G, XM_047447090.1:c.2823T>C, XM_047447090.1:c.2823T>A, XM_047447091.1:c.2823T>G, XM_047447091.1:c.2823T>C, XM_047447091.1:c.2823T>A, XM_047447103.1:c.2823T>G, XM_047447103.1:c.2823T>C, XM_047447103.1:c.2823T>A, XM_047447105.1:c.2823T>G, XM_047447105.1:c.2823T>C, XM_047447105.1:c.2823T>A, XM_047447093.1:c.2823T>G, XM_047447093.1:c.2823T>C, XM_047447093.1:c.2823T>A, XM_047447095.1:c.2823T>G, XM_047447095.1:c.2823T>C, XM_047447095.1:c.2823T>A, XM_047447096.1:c.2760T>G, XM_047447096.1:c.2760T>C, XM_047447096.1:c.2760T>A, XM_047447106.1:c.2760T>G, XM_047447106.1:c.2760T>C, XM_047447106.1:c.2760T>A, NM_001300850.1:c.2823T>G, NM_001300850.1:c.2823T>C, NM_001300850.1:c.2823T>A, XM_047447104.1:c.2823T>G, XM_047447104.1:c.2823T>C, XM_047447104.1:c.2823T>A, NM_001300851.1:c.2823T>G, NM_001300851.1:c.2823T>C, NM_001300851.1:c.2823T>A, NM_001300852.1:c.2823T>G, NM_001300852.1:c.2823T>C, NM_001300852.1:c.2823T>A, NP_742068.1:p.Ser941Arg, NP_742068.1:p.Ser941Arg, XP_005244978.1:p.Ser920Arg, XP_005244978.1:p.Ser920Arg, XP_047303045.1:p.Ser941Arg, XP_047303045.1:p.Ser941Arg, XP_047303048.1:p.Ser941Arg, XP_047303048.1:p.Ser941Arg, XP_047303050.1:p.Ser941Arg, XP_047303050.1:p.Ser941Arg, XP_047303053.1:p.Ser920Arg, XP_047303053.1:p.Ser920Arg, XP_047303057.1:p.Ser920Arg, XP_047303057.1:p.Ser920Arg, XP_047303058.1:p.Ser920Arg, XP_047303058.1:p.Ser920Arg, XP_047303046.1:p.Ser941Arg, XP_047303046.1:p.Ser941Arg, XP_047303047.1:p.Ser941Arg, XP_047303047.1:p.Ser941Arg, XP_047303059.1:p.Ser941Arg, XP_047303059.1:p.Ser941Arg, XP_047303061.1:p.Ser941Arg, XP_047303061.1:p.Ser941Arg, XP_047303049.1:p.Ser941Arg, XP_047303049.1:p.Ser941Arg, XP_047303051.1:p.Ser941Arg, XP_047303051.1:p.Ser941Arg, XP_047303052.1:p.Ser920Arg, XP_047303052.1:p.Ser920Arg, XP_047303062.1:p.Ser920Arg, XP_047303062.1:p.Ser920Arg, NP_001287779.1:p.Ser941Arg, NP_001287779.1:p.Ser941Arg, XP_047303060.1:p.Ser941Arg, XP_047303060.1:p.Ser941Arg, NP_001287780.1:p.Ser941Arg, NP_001287780.1:p.Ser941Arg, NP_001287781.1:p.Ser941Arg, NP_001287781.1:p.Ser941Arg

                                16.

                                rs1475400651 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:173952121 (GRCh38)
                                  1:173921259 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:173952120:C:T
                                  Gene:
                                  RC3H1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000005/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1474739896 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:173961727 (GRCh38)
                                    1:173930865 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:173961726:T:C
                                    Gene:
                                    RC3H1 (Varview)
                                    Functional Consequence:
                                    missense_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_000001.11:g.173961727T>C, NC_000001.10:g.173930865T>C, NM_172071.4:c.2200A>G, NM_172071.3:c.2200A>G, NM_172071.2:c.2200A>G, XM_005244921.4:c.2137A>G, XM_005244921.3:c.2137A>G, XM_005244921.2:c.2137A>G, XM_005244921.1:c.2137A>G, XM_047447089.1:c.2200A>G, XM_047447092.1:c.2200A>G, XM_047447094.1:c.2200A>G, XM_047447097.1:c.2137A>G, XM_047447101.1:c.2137A>G, XM_047447102.1:c.2137A>G, XM_047447090.1:c.2200A>G, XM_047447091.1:c.2200A>G, XM_047447103.1:c.2200A>G, XM_047447105.1:c.2200A>G, XM_047447093.1:c.2200A>G, XM_047447095.1:c.2200A>G, XM_047447096.1:c.2137A>G, XM_047447106.1:c.2137A>G, NM_001300850.1:c.2200A>G, XM_047447104.1:c.2200A>G, NM_001300851.1:c.2200A>G, NM_001300852.1:c.2200A>G, NP_742068.1:p.Arg734Gly, XP_005244978.1:p.Arg713Gly, XP_047303045.1:p.Arg734Gly, XP_047303048.1:p.Arg734Gly, XP_047303050.1:p.Arg734Gly, XP_047303053.1:p.Arg713Gly, XP_047303057.1:p.Arg713Gly, XP_047303058.1:p.Arg713Gly, XP_047303046.1:p.Arg734Gly, XP_047303047.1:p.Arg734Gly, XP_047303059.1:p.Arg734Gly, XP_047303061.1:p.Arg734Gly, XP_047303049.1:p.Arg734Gly, XP_047303051.1:p.Arg734Gly, XP_047303052.1:p.Arg713Gly, XP_047303062.1:p.Arg713Gly, NP_001287779.1:p.Arg734Gly, XP_047303060.1:p.Arg734Gly, NP_001287780.1:p.Arg734Gly, NP_001287781.1:p.Arg734Gly

                                    18.

                                    rs1474564900 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:173961959 (GRCh38)
                                      1:173931097 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:173961958:G:T
                                      Gene:
                                      RC3H1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      HGVS:

                                      19.

                                      rs1474020185 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        1:173961756 (GRCh38)
                                        1:173930894 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:173961755:T:C,NC_000001.11:173961755:T:G
                                        Gene:
                                        RC3H1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0./0 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.173961756T>C, NC_000001.11:g.173961756T>G, NC_000001.10:g.173930894T>C, NC_000001.10:g.173930894T>G, NM_172071.4:c.2171A>G, NM_172071.4:c.2171A>C, NM_172071.3:c.2171A>G, NM_172071.3:c.2171A>C, NM_172071.2:c.2171A>G, NM_172071.2:c.2171A>C, XM_005244921.4:c.2108A>G, XM_005244921.4:c.2108A>C, XM_005244921.3:c.2108A>G, XM_005244921.3:c.2108A>C, XM_005244921.2:c.2108A>G, XM_005244921.2:c.2108A>C, XM_005244921.1:c.2108A>G, XM_005244921.1:c.2108A>C, XM_047447089.1:c.2171A>G, XM_047447089.1:c.2171A>C, XM_047447092.1:c.2171A>G, XM_047447092.1:c.2171A>C, XM_047447094.1:c.2171A>G, XM_047447094.1:c.2171A>C, XM_047447097.1:c.2108A>G, XM_047447097.1:c.2108A>C, XM_047447101.1:c.2108A>G, XM_047447101.1:c.2108A>C, XM_047447102.1:c.2108A>G, XM_047447102.1:c.2108A>C, XM_047447090.1:c.2171A>G, XM_047447090.1:c.2171A>C, XM_047447091.1:c.2171A>G, XM_047447091.1:c.2171A>C, XM_047447103.1:c.2171A>G, XM_047447103.1:c.2171A>C, XM_047447105.1:c.2171A>G, XM_047447105.1:c.2171A>C, XM_047447093.1:c.2171A>G, XM_047447093.1:c.2171A>C, XM_047447095.1:c.2171A>G, XM_047447095.1:c.2171A>C, XM_047447096.1:c.2108A>G, XM_047447096.1:c.2108A>C, XM_047447106.1:c.2108A>G, XM_047447106.1:c.2108A>C, NM_001300850.1:c.2171A>G, NM_001300850.1:c.2171A>C, XM_047447104.1:c.2171A>G, XM_047447104.1:c.2171A>C, NM_001300851.1:c.2171A>G, NM_001300851.1:c.2171A>C, NM_001300852.1:c.2171A>G, NM_001300852.1:c.2171A>C, NP_742068.1:p.His724Arg, NP_742068.1:p.His724Pro, XP_005244978.1:p.His703Arg, XP_005244978.1:p.His703Pro, XP_047303045.1:p.His724Arg, XP_047303045.1:p.His724Pro, XP_047303048.1:p.His724Arg, XP_047303048.1:p.His724Pro, XP_047303050.1:p.His724Arg, XP_047303050.1:p.His724Pro, XP_047303053.1:p.His703Arg, XP_047303053.1:p.His703Pro, XP_047303057.1:p.His703Arg, XP_047303057.1:p.His703Pro, XP_047303058.1:p.His703Arg, XP_047303058.1:p.His703Pro, XP_047303046.1:p.His724Arg, XP_047303046.1:p.His724Pro, XP_047303047.1:p.His724Arg, XP_047303047.1:p.His724Pro, XP_047303059.1:p.His724Arg, XP_047303059.1:p.His724Pro, XP_047303061.1:p.His724Arg, XP_047303061.1:p.His724Pro, XP_047303049.1:p.His724Arg, XP_047303049.1:p.His724Pro, XP_047303051.1:p.His724Arg, XP_047303051.1:p.His724Pro, XP_047303052.1:p.His703Arg, XP_047303052.1:p.His703Pro, XP_047303062.1:p.His703Arg, XP_047303062.1:p.His703Pro, NP_001287779.1:p.His724Arg, NP_001287779.1:p.His724Pro, XP_047303060.1:p.His724Arg, XP_047303060.1:p.His724Pro, NP_001287780.1:p.His724Arg, NP_001287780.1:p.His724Pro, NP_001287781.1:p.His724Arg, NP_001287781.1:p.His724Pro

                                        20.

                                        rs1473391502 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          1:173964031 (GRCh38)
                                          1:173933169 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:173964030:A:C
                                          Gene:
                                          RC3H1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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