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Items: 1 to 20 of 1632

1.

rs1490726106 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    17:78051344 (GRCh38)
    17:76047425 (GRCh37)
    Canonical SPDI:
    NC_000017.11:78051343:C:G
    Gene:
    TNRC6C (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.78051344C>G, NC_000017.10:g.76047425C>G, XM_006721996.5:c.2912C>G, XM_006721996.4:c.3008C>G, XM_006721996.3:c.3008C>G, XM_006721996.2:c.2912C>G, XM_006721996.1:c.2990C>G, XM_006721997.5:c.2912C>G, XM_006721997.4:c.3008C>G, XM_006721997.3:c.3008C>G, XM_006721997.2:c.2912C>G, XM_006721997.1:c.2990C>G, NM_018996.3:c.2282C>G, NM_001142640.2:c.2912C>G, NM_001142640.1:c.2282C>G, NM_001395509.1:c.2912C>G, NM_001395510.1:c.2912C>G, NM_001395512.1:c.2282C>G, XM_047436496.1:c.2282C>G, XM_047436485.1:c.2912C>G, XM_047436486.1:c.2912C>G, XM_047436487.1:c.2912C>G, XM_047436488.1:c.2912C>G, XM_047436489.1:c.2912C>G, NM_001395511.1:c.2282C>G, NM_001395508.1:c.2282C>G, XM_047436490.1:c.2912C>G, XM_047436491.1:c.2912C>G, XM_047436492.1:c.2912C>G, XM_047436493.1:c.2912C>G, XM_047436494.1:c.2912C>G, XM_047436495.1:c.2912C>G, XP_006722059.4:p.Thr971Ser, XP_006722060.4:p.Thr971Ser, NP_061869.2:p.Thr761Ser, NP_001136112.2:p.Thr971Ser, NP_001382438.1:p.Thr971Ser, NP_001382439.1:p.Thr971Ser, NP_001382441.1:p.Thr761Ser, XP_047292452.1:p.Thr761Ser, XP_047292441.1:p.Thr971Ser, XP_047292442.1:p.Thr971Ser, XP_047292443.1:p.Thr971Ser, XP_047292444.1:p.Thr971Ser, XP_047292445.1:p.Thr971Ser, NP_001382440.1:p.Thr761Ser, NP_001382437.1:p.Thr761Ser, XP_047292446.1:p.Thr971Ser, XP_047292447.1:p.Thr971Ser, XP_047292448.1:p.Thr971Ser, XP_047292449.1:p.Thr971Ser, XP_047292450.1:p.Thr971Ser, XP_047292451.1:p.Thr971Ser

    2.

    rs1490524231 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:78049286 (GRCh38)
      17:76045367 (GRCh37)
      Canonical SPDI:
      NC_000017.11:78049285:A:G
      Gene:
      TNRC6C (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000017.11:g.78049286A>G, NC_000017.10:g.76045367A>G, XM_006721996.5:c.854A>G, XM_006721996.4:c.950A>G, XM_006721996.3:c.950A>G, XM_006721996.2:c.854A>G, XM_006721996.1:c.932A>G, XM_006721997.5:c.854A>G, XM_006721997.4:c.950A>G, XM_006721997.3:c.950A>G, XM_006721997.2:c.854A>G, XM_006721997.1:c.932A>G, NM_018996.3:c.224A>G, NM_001142640.2:c.854A>G, NM_001142640.1:c.224A>G, NM_001395509.1:c.854A>G, NM_001395510.1:c.854A>G, NM_001395512.1:c.224A>G, XM_047436496.1:c.224A>G, XM_047436485.1:c.854A>G, XM_047436486.1:c.854A>G, XM_047436487.1:c.854A>G, XM_047436488.1:c.854A>G, XM_047436489.1:c.854A>G, NM_001395511.1:c.224A>G, NM_001395508.1:c.224A>G, XM_047436490.1:c.854A>G, XM_047436491.1:c.854A>G, XM_047436492.1:c.854A>G, XM_047436493.1:c.854A>G, XM_047436494.1:c.854A>G, XM_047436495.1:c.854A>G, XP_006722059.4:p.Asp285Gly, XP_006722060.4:p.Asp285Gly, NP_061869.2:p.Asp75Gly, NP_001136112.2:p.Asp285Gly, NP_001382438.1:p.Asp285Gly, NP_001382439.1:p.Asp285Gly, NP_001382441.1:p.Asp75Gly, XP_047292452.1:p.Asp75Gly, XP_047292441.1:p.Asp285Gly, XP_047292442.1:p.Asp285Gly, XP_047292443.1:p.Asp285Gly, XP_047292444.1:p.Asp285Gly, XP_047292445.1:p.Asp285Gly, NP_001382440.1:p.Asp75Gly, NP_001382437.1:p.Asp75Gly, XP_047292446.1:p.Asp285Gly, XP_047292447.1:p.Asp285Gly, XP_047292448.1:p.Asp285Gly, XP_047292449.1:p.Asp285Gly, XP_047292450.1:p.Asp285Gly, XP_047292451.1:p.Asp285Gly

      3.

      rs1489917803 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:78086565 (GRCh38)
        17:76082646 (GRCh37)
        Canonical SPDI:
        NC_000017.11:78086564:C:T
        Gene:
        TNRC6C (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        NC_000017.11:g.78086565C>T, NC_000017.10:g.76082646C>T, XM_006721996.5:c.4170C>T, XM_006721996.4:c.4266C>T, XM_006721996.3:c.4266C>T, XM_006721996.2:c.4170C>T, XM_006721996.1:c.4248C>T, XM_006721997.5:c.4020C>T, XM_006721997.4:c.4116C>T, XM_006721997.3:c.4116C>T, XM_006721997.2:c.4020C>T, XM_006721997.1:c.4098C>T, NM_018996.3:c.3540C>T, NM_001142640.2:c.4161C>T, NM_001142640.1:c.3531C>T, NM_001395509.1:c.4185C>T, NM_001395510.1:c.4161C>T, NM_001395512.1:c.3531C>T, XM_047436496.1:c.3540C>T, XM_047436485.1:c.4170C>T, XM_047436486.1:c.4161C>T, XM_047436487.1:c.4020C>T, XM_047436488.1:c.4011C>T, XM_047436489.1:c.4011C>T, NM_001395511.1:c.3555C>T, NM_001395508.1:c.3531C>T, XM_047436490.1:c.4020C>T, XM_047436491.1:c.4011C>T, XM_047436492.1:c.3873C>T, XM_047436493.1:c.3864C>T, XM_047436494.1:c.3873C>T, XM_047436495.1:c.3864C>T

        4.

        rs1489910284 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:78064828 (GRCh38)
          17:76060909 (GRCh37)
          Canonical SPDI:
          NC_000017.11:78064827:G:A
          Gene:
          TNRC6C (Varview)
          Functional Consequence:
          stop_gained,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.78064828G>A, NC_000017.10:g.76060909G>A, XM_006721996.5:c.3132G>A, XM_006721996.4:c.3228G>A, XM_006721996.3:c.3228G>A, XM_006721996.2:c.3132G>A, XM_006721996.1:c.3210G>A, XM_006721997.5:c.3132G>A, XM_006721997.4:c.3228G>A, XM_006721997.3:c.3228G>A, XM_006721997.2:c.3132G>A, XM_006721997.1:c.3210G>A, NM_018996.3:c.2502G>A, NM_001142640.2:c.3123G>A, NM_001142640.1:c.2493G>A, NM_001395509.1:c.3123G>A, NM_001395510.1:c.3123G>A, NM_001395512.1:c.2493G>A, XM_047436496.1:c.2502G>A, XM_047436485.1:c.3132G>A, XM_047436486.1:c.3123G>A, XM_047436487.1:c.3132G>A, XM_047436488.1:c.3123G>A, XM_047436489.1:c.3123G>A, NM_001395511.1:c.2493G>A, NM_001395508.1:c.2493G>A, XM_047436490.1:c.3132G>A, XM_047436491.1:c.3123G>A, XM_047436492.1:c.3132G>A, XM_047436493.1:c.3123G>A, XM_047436494.1:c.3132G>A, XM_047436495.1:c.3123G>A, XP_006722059.4:p.Trp1044Ter, XP_006722060.4:p.Trp1044Ter, NP_061869.2:p.Trp834Ter, NP_001136112.2:p.Trp1041Ter, NP_001382438.1:p.Trp1041Ter, NP_001382439.1:p.Trp1041Ter, NP_001382441.1:p.Trp831Ter, XP_047292452.1:p.Trp834Ter, XP_047292441.1:p.Trp1044Ter, XP_047292442.1:p.Trp1041Ter, XP_047292443.1:p.Trp1044Ter, XP_047292444.1:p.Trp1041Ter, XP_047292445.1:p.Trp1041Ter, NP_001382440.1:p.Trp831Ter, NP_001382437.1:p.Trp831Ter, XP_047292446.1:p.Trp1044Ter, XP_047292447.1:p.Trp1041Ter, XP_047292448.1:p.Trp1044Ter, XP_047292449.1:p.Trp1041Ter, XP_047292450.1:p.Trp1044Ter, XP_047292451.1:p.Trp1041Ter

          5.

          rs1488980966 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:78051457 (GRCh38)
            17:76047538 (GRCh37)
            Canonical SPDI:
            NC_000017.11:78051456:G:A
            Gene:
            TNRC6C (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:

            6.

            rs1488889681 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:78103509 (GRCh38)
              17:76099590 (GRCh37)
              Canonical SPDI:
              NC_000017.11:78103508:C:T
              Gene:
              TNRC6C (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000017.11:g.78103509C>T, NC_000017.10:g.76099590C>T, XM_006721996.5:c.5415C>T, XM_006721996.4:c.5511C>T, XM_006721996.3:c.5511C>T, XM_006721996.2:c.5415C>T, XM_006721996.1:c.5493C>T, XM_006721997.5:c.5265C>T, XM_006721997.4:c.5361C>T, XM_006721997.3:c.5361C>T, XM_006721997.2:c.5265C>T, XM_006721997.1:c.5343C>T, NM_018996.3:c.4668C>T, NM_001142640.2:c.5406C>T, NM_001142640.1:c.4776C>T, NM_001395509.1:c.5313C>T, NM_001395510.1:c.5289C>T, NM_001395512.1:c.4659C>T, XM_047436496.1:c.4845C>T, XM_047436485.1:c.5475C>T, XM_047436486.1:c.5466C>T, XM_047436487.1:c.5325C>T, XM_047436488.1:c.5316C>T, XM_047436489.1:c.5256C>T, NM_001395511.1:c.4800C>T, NM_001395508.1:c.4776C>T, XM_047436490.1:c.5148C>T, XM_047436491.1:c.5139C>T, XM_047436492.1:c.5118C>T, XM_047436493.1:c.5109C>T, XM_047436494.1:c.5001C>T, XM_047436495.1:c.4992C>T

              7.

              rs1488395106 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:78067873 (GRCh38)
                17:76063954 (GRCh37)
                Canonical SPDI:
                NC_000017.11:78067872:A:G
                Gene:
                TNRC6C (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.78067873A>G, NC_000017.10:g.76063954A>G, XM_006721996.5:c.3358A>G, XM_006721996.4:c.3454A>G, XM_006721996.3:c.3454A>G, XM_006721996.2:c.3358A>G, XM_006721996.1:c.3436A>G, XM_006721997.5:c.3358A>G, XM_006721997.4:c.3454A>G, XM_006721997.3:c.3454A>G, XM_006721997.2:c.3358A>G, XM_006721997.1:c.3436A>G, NM_018996.3:c.2728A>G, NM_001142640.2:c.3349A>G, NM_001142640.1:c.2719A>G, NM_001395509.1:c.3349A>G, NM_001395510.1:c.3349A>G, NM_001395512.1:c.2719A>G, XM_047436496.1:c.2728A>G, XM_047436485.1:c.3358A>G, XM_047436486.1:c.3349A>G, XM_047436487.1:c.3358A>G, XM_047436488.1:c.3349A>G, XM_047436489.1:c.3349A>G, NM_001395511.1:c.2719A>G, NM_001395508.1:c.2719A>G, XM_047436490.1:c.3358A>G, XM_047436491.1:c.3349A>G, XM_047436492.1:c.3358A>G, XM_047436493.1:c.3349A>G, XM_047436494.1:c.3358A>G, XM_047436495.1:c.3349A>G, XP_006722059.4:p.Thr1120Ala, XP_006722060.4:p.Thr1120Ala, NP_061869.2:p.Thr910Ala, NP_001136112.2:p.Thr1117Ala, NP_001382438.1:p.Thr1117Ala, NP_001382439.1:p.Thr1117Ala, NP_001382441.1:p.Thr907Ala, XP_047292452.1:p.Thr910Ala, XP_047292441.1:p.Thr1120Ala, XP_047292442.1:p.Thr1117Ala, XP_047292443.1:p.Thr1120Ala, XP_047292444.1:p.Thr1117Ala, XP_047292445.1:p.Thr1117Ala, NP_001382440.1:p.Thr907Ala, NP_001382437.1:p.Thr907Ala, XP_047292446.1:p.Thr1120Ala, XP_047292447.1:p.Thr1117Ala, XP_047292448.1:p.Thr1120Ala, XP_047292449.1:p.Thr1117Ala, XP_047292450.1:p.Thr1120Ala, XP_047292451.1:p.Thr1117Ala

                8.

                rs1487771279 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:78086553 (GRCh38)
                  17:76082634 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:78086552:T:C
                  Gene:
                  TNRC6C (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.78086553T>C, NC_000017.10:g.76082634T>C, XM_006721996.5:c.4158T>C, XM_006721996.4:c.4254T>C, XM_006721996.3:c.4254T>C, XM_006721996.2:c.4158T>C, XM_006721996.1:c.4236T>C, XM_006721997.5:c.4008T>C, XM_006721997.4:c.4104T>C, XM_006721997.3:c.4104T>C, XM_006721997.2:c.4008T>C, XM_006721997.1:c.4086T>C, NM_018996.3:c.3528T>C, NM_001142640.2:c.4149T>C, NM_001142640.1:c.3519T>C, NM_001395509.1:c.4173T>C, NM_001395510.1:c.4149T>C, NM_001395512.1:c.3519T>C, XM_047436496.1:c.3528T>C, XM_047436485.1:c.4158T>C, XM_047436486.1:c.4149T>C, XM_047436487.1:c.4008T>C, XM_047436488.1:c.3999T>C, XM_047436489.1:c.3999T>C, NM_001395511.1:c.3543T>C, NM_001395508.1:c.3519T>C, XM_047436490.1:c.4008T>C, XM_047436491.1:c.3999T>C, XM_047436492.1:c.3861T>C, XM_047436493.1:c.3852T>C, XM_047436494.1:c.3861T>C, XM_047436495.1:c.3852T>C

                  9.

                  rs1486137355 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    17:78086989 (GRCh38)
                    17:76083070 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:78086988:C:G,NC_000017.11:78086988:C:T
                    Gene:
                    TNRC6C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000017.11:g.78086989C>G, NC_000017.11:g.78086989C>T, NC_000017.10:g.76083070C>G, NC_000017.10:g.76083070C>T, XM_006721996.5:c.4328C>G, XM_006721996.5:c.4328C>T, XM_006721996.4:c.4424C>G, XM_006721996.4:c.4424C>T, XM_006721996.3:c.4424C>G, XM_006721996.3:c.4424C>T, XM_006721996.2:c.4328C>G, XM_006721996.2:c.4328C>T, XM_006721996.1:c.4406C>G, XM_006721996.1:c.4406C>T, XM_006721997.5:c.4178C>G, XM_006721997.5:c.4178C>T, XM_006721997.4:c.4274C>G, XM_006721997.4:c.4274C>T, XM_006721997.3:c.4274C>G, XM_006721997.3:c.4274C>T, XM_006721997.2:c.4178C>G, XM_006721997.2:c.4178C>T, XM_006721997.1:c.4256C>G, XM_006721997.1:c.4256C>T, NM_018996.3:c.3698C>G, NM_018996.3:c.3698C>T, NM_001142640.2:c.4319C>G, NM_001142640.2:c.4319C>T, NM_001142640.1:c.3689C>G, NM_001142640.1:c.3689C>T, NM_001395509.1:c.4343C>G, NM_001395509.1:c.4343C>T, NM_001395510.1:c.4319C>G, NM_001395510.1:c.4319C>T, NM_001395512.1:c.3689C>G, NM_001395512.1:c.3689C>T, XM_047436496.1:c.3698C>G, XM_047436496.1:c.3698C>T, XM_047436485.1:c.4328C>G, XM_047436485.1:c.4328C>T, XM_047436486.1:c.4319C>G, XM_047436486.1:c.4319C>T, XM_047436487.1:c.4178C>G, XM_047436487.1:c.4178C>T, XM_047436488.1:c.4169C>G, XM_047436488.1:c.4169C>T, XM_047436489.1:c.4169C>G, XM_047436489.1:c.4169C>T, NM_001395511.1:c.3713C>G, NM_001395511.1:c.3713C>T, NM_001395508.1:c.3689C>G, NM_001395508.1:c.3689C>T, XM_047436490.1:c.4178C>G, XM_047436490.1:c.4178C>T, XM_047436491.1:c.4169C>G, XM_047436491.1:c.4169C>T, XM_047436492.1:c.4031C>G, XM_047436492.1:c.4031C>T, XM_047436493.1:c.4022C>G, XM_047436493.1:c.4022C>T, XM_047436494.1:c.4031C>G, XM_047436494.1:c.4031C>T, XM_047436495.1:c.4022C>G, XM_047436495.1:c.4022C>T, XP_006722059.4:p.Ser1443Trp, XP_006722059.4:p.Ser1443Leu, XP_006722060.4:p.Ser1393Trp, XP_006722060.4:p.Ser1393Leu, NP_061869.2:p.Ser1233Trp, NP_061869.2:p.Ser1233Leu, NP_001136112.2:p.Ser1440Trp, NP_001136112.2:p.Ser1440Leu, NP_001382438.1:p.Ser1448Trp, NP_001382438.1:p.Ser1448Leu, NP_001382439.1:p.Ser1440Trp, NP_001382439.1:p.Ser1440Leu, NP_001382441.1:p.Ser1230Trp, NP_001382441.1:p.Ser1230Leu, XP_047292452.1:p.Ser1233Trp, XP_047292452.1:p.Ser1233Leu, XP_047292441.1:p.Ser1443Trp, XP_047292441.1:p.Ser1443Leu, XP_047292442.1:p.Ser1440Trp, XP_047292442.1:p.Ser1440Leu, XP_047292443.1:p.Ser1393Trp, XP_047292443.1:p.Ser1393Leu, XP_047292444.1:p.Ser1390Trp, XP_047292444.1:p.Ser1390Leu, XP_047292445.1:p.Ser1390Trp, XP_047292445.1:p.Ser1390Leu, NP_001382440.1:p.Ser1238Trp, NP_001382440.1:p.Ser1238Leu, NP_001382437.1:p.Ser1230Trp, NP_001382437.1:p.Ser1230Leu, XP_047292446.1:p.Ser1393Trp, XP_047292446.1:p.Ser1393Leu, XP_047292447.1:p.Ser1390Trp, XP_047292447.1:p.Ser1390Leu, XP_047292448.1:p.Ser1344Trp, XP_047292448.1:p.Ser1344Leu, XP_047292449.1:p.Ser1341Trp, XP_047292449.1:p.Ser1341Leu, XP_047292450.1:p.Ser1344Trp, XP_047292450.1:p.Ser1344Leu, XP_047292451.1:p.Ser1341Trp, XP_047292451.1:p.Ser1341Leu

                    10.

                    rs1486004650 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:78098523 (GRCh38)
                      17:76094604 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:78098522:G:A
                      Gene:
                      TNRC6C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_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_000017.11:g.78098523G>A, NC_000017.10:g.76094604G>A, XM_006721996.5:c.5234G>A, XM_006721996.4:c.5330G>A, XM_006721996.3:c.5330G>A, XM_006721996.2:c.5234G>A, XM_006721996.1:c.5312G>A, XM_006721997.5:c.5084G>A, XM_006721997.4:c.5180G>A, XM_006721997.3:c.5180G>A, XM_006721997.2:c.5084G>A, XM_006721997.1:c.5162G>A, NM_018996.3:c.4487G>A, NM_001142640.2:c.5225G>A, NM_001142640.1:c.4595G>A, NM_001395509.1:c.5132G>A, NM_001395510.1:c.5108G>A, NM_001395512.1:c.4478G>A, XM_047436496.1:c.4664G>A, XM_047436485.1:c.5294G>A, XM_047436486.1:c.5285G>A, XM_047436487.1:c.5144G>A, XM_047436488.1:c.5135G>A, XM_047436489.1:c.5075G>A, NM_001395511.1:c.4619G>A, NM_001395508.1:c.4595G>A, XM_047436490.1:c.4967G>A, XM_047436491.1:c.4958G>A, XM_047436492.1:c.4937G>A, XM_047436493.1:c.4928G>A, XM_047436494.1:c.4820G>A, XM_047436495.1:c.4811G>A, XP_006722059.4:p.Ser1745Asn, XP_006722060.4:p.Ser1695Asn, NP_061869.2:p.Ser1496Asn, NP_001136112.2:p.Ser1742Asn, NP_001382438.1:p.Ser1711Asn, NP_001382439.1:p.Ser1703Asn, NP_001382441.1:p.Ser1493Asn, XP_047292452.1:p.Ser1555Asn, XP_047292441.1:p.Ser1765Asn, XP_047292442.1:p.Ser1762Asn, XP_047292443.1:p.Ser1715Asn, XP_047292444.1:p.Ser1712Asn, XP_047292445.1:p.Ser1692Asn, NP_001382440.1:p.Ser1540Asn, NP_001382437.1:p.Ser1532Asn, XP_047292446.1:p.Ser1656Asn, XP_047292447.1:p.Ser1653Asn, XP_047292448.1:p.Ser1646Asn, XP_047292449.1:p.Ser1643Asn, XP_047292450.1:p.Ser1607Asn, XP_047292451.1:p.Ser1604Asn

                      11.

                      rs1485016000 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:78067784 (GRCh38)
                        17:76063865 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:78067783:G:A
                        Gene:
                        TNRC6C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000017.11:g.78067784G>A, NC_000017.10:g.76063865G>A, XM_006721996.5:c.3269G>A, XM_006721996.4:c.3365G>A, XM_006721996.3:c.3365G>A, XM_006721996.2:c.3269G>A, XM_006721996.1:c.3347G>A, XM_006721997.5:c.3269G>A, XM_006721997.4:c.3365G>A, XM_006721997.3:c.3365G>A, XM_006721997.2:c.3269G>A, XM_006721997.1:c.3347G>A, NM_018996.3:c.2639G>A, NM_001142640.2:c.3260G>A, NM_001142640.1:c.2630G>A, NM_001395509.1:c.3260G>A, NM_001395510.1:c.3260G>A, NM_001395512.1:c.2630G>A, XM_047436496.1:c.2639G>A, XM_047436485.1:c.3269G>A, XM_047436486.1:c.3260G>A, XM_047436487.1:c.3269G>A, XM_047436488.1:c.3260G>A, XM_047436489.1:c.3260G>A, NM_001395511.1:c.2630G>A, NM_001395508.1:c.2630G>A, XM_047436490.1:c.3269G>A, XM_047436491.1:c.3260G>A, XM_047436492.1:c.3269G>A, XM_047436493.1:c.3260G>A, XM_047436494.1:c.3269G>A, XM_047436495.1:c.3260G>A, XP_006722059.4:p.Gly1090Asp, XP_006722060.4:p.Gly1090Asp, NP_061869.2:p.Gly880Asp, NP_001136112.2:p.Gly1087Asp, NP_001382438.1:p.Gly1087Asp, NP_001382439.1:p.Gly1087Asp, NP_001382441.1:p.Gly877Asp, XP_047292452.1:p.Gly880Asp, XP_047292441.1:p.Gly1090Asp, XP_047292442.1:p.Gly1087Asp, XP_047292443.1:p.Gly1090Asp, XP_047292444.1:p.Gly1087Asp, XP_047292445.1:p.Gly1087Asp, NP_001382440.1:p.Gly877Asp, NP_001382437.1:p.Gly877Asp, XP_047292446.1:p.Gly1090Asp, XP_047292447.1:p.Gly1087Asp, XP_047292448.1:p.Gly1090Asp, XP_047292449.1:p.Gly1087Asp, XP_047292450.1:p.Gly1090Asp, XP_047292451.1:p.Gly1087Asp

                        12.

                        rs1484722701 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:78051029 (GRCh38)
                          17:76047110 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:78051028:G:A
                          Gene:
                          TNRC6C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000019/5 (TOPMED)
                          HGVS:
                          NC_000017.11:g.78051029G>A, NC_000017.10:g.76047110G>A, XM_006721996.5:c.2597G>A, XM_006721996.4:c.2693G>A, XM_006721996.3:c.2693G>A, XM_006721996.2:c.2597G>A, XM_006721996.1:c.2675G>A, XM_006721997.5:c.2597G>A, XM_006721997.4:c.2693G>A, XM_006721997.3:c.2693G>A, XM_006721997.2:c.2597G>A, XM_006721997.1:c.2675G>A, NM_018996.3:c.1967G>A, NM_001142640.2:c.2597G>A, NM_001142640.1:c.1967G>A, NM_001395509.1:c.2597G>A, NM_001395510.1:c.2597G>A, NM_001395512.1:c.1967G>A, XM_047436496.1:c.1967G>A, XM_047436485.1:c.2597G>A, XM_047436486.1:c.2597G>A, XM_047436487.1:c.2597G>A, XM_047436488.1:c.2597G>A, XM_047436489.1:c.2597G>A, NM_001395511.1:c.1967G>A, NM_001395508.1:c.1967G>A, XM_047436490.1:c.2597G>A, XM_047436491.1:c.2597G>A, XM_047436492.1:c.2597G>A, XM_047436493.1:c.2597G>A, XM_047436494.1:c.2597G>A, XM_047436495.1:c.2597G>A, XP_006722059.4:p.Gly866Glu, XP_006722060.4:p.Gly866Glu, NP_061869.2:p.Gly656Glu, NP_001136112.2:p.Gly866Glu, NP_001382438.1:p.Gly866Glu, NP_001382439.1:p.Gly866Glu, NP_001382441.1:p.Gly656Glu, XP_047292452.1:p.Gly656Glu, XP_047292441.1:p.Gly866Glu, XP_047292442.1:p.Gly866Glu, XP_047292443.1:p.Gly866Glu, XP_047292444.1:p.Gly866Glu, XP_047292445.1:p.Gly866Glu, NP_001382440.1:p.Gly656Glu, NP_001382437.1:p.Gly656Glu, XP_047292446.1:p.Gly866Glu, XP_047292447.1:p.Gly866Glu, XP_047292448.1:p.Gly866Glu, XP_047292449.1:p.Gly866Glu, XP_047292450.1:p.Gly866Glu, XP_047292451.1:p.Gly866Glu

                          13.

                          rs1483780825 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            17:78050104 (GRCh38)
                            17:76046185 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:78050103:A:C,NC_000017.11:78050103:A:G
                            Gene:
                            TNRC6C (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            G=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000017.11:g.78050104A>C, NC_000017.11:g.78050104A>G, NC_000017.10:g.76046185A>C, NC_000017.10:g.76046185A>G, XM_006721996.5:c.1672A>C, XM_006721996.5:c.1672A>G, XM_006721996.4:c.1768A>C, XM_006721996.4:c.1768A>G, XM_006721996.3:c.1768A>C, XM_006721996.3:c.1768A>G, XM_006721996.2:c.1672A>C, XM_006721996.2:c.1672A>G, XM_006721996.1:c.1750A>C, XM_006721996.1:c.1750A>G, XM_006721997.5:c.1672A>C, XM_006721997.5:c.1672A>G, XM_006721997.4:c.1768A>C, XM_006721997.4:c.1768A>G, XM_006721997.3:c.1768A>C, XM_006721997.3:c.1768A>G, XM_006721997.2:c.1672A>C, XM_006721997.2:c.1672A>G, XM_006721997.1:c.1750A>C, XM_006721997.1:c.1750A>G, NM_018996.3:c.1042A>C, NM_018996.3:c.1042A>G, NM_001142640.2:c.1672A>C, NM_001142640.2:c.1672A>G, NM_001142640.1:c.1042A>C, NM_001142640.1:c.1042A>G, NM_001395509.1:c.1672A>C, NM_001395509.1:c.1672A>G, NM_001395510.1:c.1672A>C, NM_001395510.1:c.1672A>G, NM_001395512.1:c.1042A>C, NM_001395512.1:c.1042A>G, XM_047436496.1:c.1042A>C, XM_047436496.1:c.1042A>G, XM_047436485.1:c.1672A>C, XM_047436485.1:c.1672A>G, XM_047436486.1:c.1672A>C, XM_047436486.1:c.1672A>G, XM_047436487.1:c.1672A>C, XM_047436487.1:c.1672A>G, XM_047436488.1:c.1672A>C, XM_047436488.1:c.1672A>G, XM_047436489.1:c.1672A>C, XM_047436489.1:c.1672A>G, NM_001395511.1:c.1042A>C, NM_001395511.1:c.1042A>G, NM_001395508.1:c.1042A>C, NM_001395508.1:c.1042A>G, XM_047436490.1:c.1672A>C, XM_047436490.1:c.1672A>G, XM_047436491.1:c.1672A>C, XM_047436491.1:c.1672A>G, XM_047436492.1:c.1672A>C, XM_047436492.1:c.1672A>G, XM_047436493.1:c.1672A>C, XM_047436493.1:c.1672A>G, XM_047436494.1:c.1672A>C, XM_047436494.1:c.1672A>G, XM_047436495.1:c.1672A>C, XM_047436495.1:c.1672A>G, XP_006722059.4:p.Asn558His, XP_006722059.4:p.Asn558Asp, XP_006722060.4:p.Asn558His, XP_006722060.4:p.Asn558Asp, NP_061869.2:p.Asn348His, NP_061869.2:p.Asn348Asp, NP_001136112.2:p.Asn558His, NP_001136112.2:p.Asn558Asp, NP_001382438.1:p.Asn558His, NP_001382438.1:p.Asn558Asp, NP_001382439.1:p.Asn558His, NP_001382439.1:p.Asn558Asp, NP_001382441.1:p.Asn348His, NP_001382441.1:p.Asn348Asp, XP_047292452.1:p.Asn348His, XP_047292452.1:p.Asn348Asp, XP_047292441.1:p.Asn558His, XP_047292441.1:p.Asn558Asp, XP_047292442.1:p.Asn558His, XP_047292442.1:p.Asn558Asp, XP_047292443.1:p.Asn558His, XP_047292443.1:p.Asn558Asp, XP_047292444.1:p.Asn558His, XP_047292444.1:p.Asn558Asp, XP_047292445.1:p.Asn558His, XP_047292445.1:p.Asn558Asp, NP_001382440.1:p.Asn348His, NP_001382440.1:p.Asn348Asp, NP_001382437.1:p.Asn348His, NP_001382437.1:p.Asn348Asp, XP_047292446.1:p.Asn558His, XP_047292446.1:p.Asn558Asp, XP_047292447.1:p.Asn558His, XP_047292447.1:p.Asn558Asp, XP_047292448.1:p.Asn558His, XP_047292448.1:p.Asn558Asp, XP_047292449.1:p.Asn558His, XP_047292449.1:p.Asn558Asp, XP_047292450.1:p.Asn558His, XP_047292450.1:p.Asn558Asp, XP_047292451.1:p.Asn558His, XP_047292451.1:p.Asn558Asp

                            14.

                            rs1483478714 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:78050355 (GRCh38)
                              17:76046436 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:78050354:C:T
                              Gene:
                              TNRC6C (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.78050355C>T, NC_000017.10:g.76046436C>T, XM_006721996.5:c.1923C>T, XM_006721996.4:c.2019C>T, XM_006721996.3:c.2019C>T, XM_006721996.2:c.1923C>T, XM_006721996.1:c.2001C>T, XM_006721997.5:c.1923C>T, XM_006721997.4:c.2019C>T, XM_006721997.3:c.2019C>T, XM_006721997.2:c.1923C>T, XM_006721997.1:c.2001C>T, NM_018996.3:c.1293C>T, NM_001142640.2:c.1923C>T, NM_001142640.1:c.1293C>T, NM_001395509.1:c.1923C>T, NM_001395510.1:c.1923C>T, NM_001395512.1:c.1293C>T, XM_047436496.1:c.1293C>T, XM_047436485.1:c.1923C>T, XM_047436486.1:c.1923C>T, XM_047436487.1:c.1923C>T, XM_047436488.1:c.1923C>T, XM_047436489.1:c.1923C>T, NM_001395511.1:c.1293C>T, NM_001395508.1:c.1293C>T, XM_047436490.1:c.1923C>T, XM_047436491.1:c.1923C>T, XM_047436492.1:c.1923C>T, XM_047436493.1:c.1923C>T, XM_047436494.1:c.1923C>T, XM_047436495.1:c.1923C>T

                              15.

                              rs1483126097 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                17:78050731 (GRCh38)
                                17:76046812 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:78050730:G:A,NC_000017.11:78050730:G:C
                                Gene:
                                TNRC6C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000017.11:g.78050731G>A, NC_000017.11:g.78050731G>C, NC_000017.10:g.76046812G>A, NC_000017.10:g.76046812G>C, XM_006721996.5:c.2299G>A, XM_006721996.5:c.2299G>C, XM_006721996.4:c.2395G>A, XM_006721996.4:c.2395G>C, XM_006721996.3:c.2395G>A, XM_006721996.3:c.2395G>C, XM_006721996.2:c.2299G>A, XM_006721996.2:c.2299G>C, XM_006721996.1:c.2377G>A, XM_006721996.1:c.2377G>C, XM_006721997.5:c.2299G>A, XM_006721997.5:c.2299G>C, XM_006721997.4:c.2395G>A, XM_006721997.4:c.2395G>C, XM_006721997.3:c.2395G>A, XM_006721997.3:c.2395G>C, XM_006721997.2:c.2299G>A, XM_006721997.2:c.2299G>C, XM_006721997.1:c.2377G>A, XM_006721997.1:c.2377G>C, NM_018996.3:c.1669G>A, NM_018996.3:c.1669G>C, NM_001142640.2:c.2299G>A, NM_001142640.2:c.2299G>C, NM_001142640.1:c.1669G>A, NM_001142640.1:c.1669G>C, NM_001395509.1:c.2299G>A, NM_001395509.1:c.2299G>C, NM_001395510.1:c.2299G>A, NM_001395510.1:c.2299G>C, NM_001395512.1:c.1669G>A, NM_001395512.1:c.1669G>C, XM_047436496.1:c.1669G>A, XM_047436496.1:c.1669G>C, XM_047436485.1:c.2299G>A, XM_047436485.1:c.2299G>C, XM_047436486.1:c.2299G>A, XM_047436486.1:c.2299G>C, XM_047436487.1:c.2299G>A, XM_047436487.1:c.2299G>C, XM_047436488.1:c.2299G>A, XM_047436488.1:c.2299G>C, XM_047436489.1:c.2299G>A, XM_047436489.1:c.2299G>C, NM_001395511.1:c.1669G>A, NM_001395511.1:c.1669G>C, NM_001395508.1:c.1669G>A, NM_001395508.1:c.1669G>C, XM_047436490.1:c.2299G>A, XM_047436490.1:c.2299G>C, XM_047436491.1:c.2299G>A, XM_047436491.1:c.2299G>C, XM_047436492.1:c.2299G>A, XM_047436492.1:c.2299G>C, XM_047436493.1:c.2299G>A, XM_047436493.1:c.2299G>C, XM_047436494.1:c.2299G>A, XM_047436494.1:c.2299G>C, XM_047436495.1:c.2299G>A, XM_047436495.1:c.2299G>C, XP_006722059.4:p.Ala767Thr, XP_006722059.4:p.Ala767Pro, XP_006722060.4:p.Ala767Thr, XP_006722060.4:p.Ala767Pro, NP_061869.2:p.Ala557Thr, NP_061869.2:p.Ala557Pro, NP_001136112.2:p.Ala767Thr, NP_001136112.2:p.Ala767Pro, NP_001382438.1:p.Ala767Thr, NP_001382438.1:p.Ala767Pro, NP_001382439.1:p.Ala767Thr, NP_001382439.1:p.Ala767Pro, NP_001382441.1:p.Ala557Thr, NP_001382441.1:p.Ala557Pro, XP_047292452.1:p.Ala557Thr, XP_047292452.1:p.Ala557Pro, XP_047292441.1:p.Ala767Thr, XP_047292441.1:p.Ala767Pro, XP_047292442.1:p.Ala767Thr, XP_047292442.1:p.Ala767Pro, XP_047292443.1:p.Ala767Thr, XP_047292443.1:p.Ala767Pro, XP_047292444.1:p.Ala767Thr, XP_047292444.1:p.Ala767Pro, XP_047292445.1:p.Ala767Thr, XP_047292445.1:p.Ala767Pro, NP_001382440.1:p.Ala557Thr, NP_001382440.1:p.Ala557Pro, NP_001382437.1:p.Ala557Thr, NP_001382437.1:p.Ala557Pro, XP_047292446.1:p.Ala767Thr, XP_047292446.1:p.Ala767Pro, XP_047292447.1:p.Ala767Thr, XP_047292447.1:p.Ala767Pro, XP_047292448.1:p.Ala767Thr, XP_047292448.1:p.Ala767Pro, XP_047292449.1:p.Ala767Thr, XP_047292449.1:p.Ala767Pro, XP_047292450.1:p.Ala767Thr, XP_047292450.1:p.Ala767Pro, XP_047292451.1:p.Ala767Thr, XP_047292451.1:p.Ala767Pro

                                16.

                                rs1482605541 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  17:78104736 (GRCh38)
                                  17:76100817 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:78104735:C:A
                                  Gene:
                                  TNRC6C (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000017.11:g.78104736C>A, NC_000017.10:g.76100817C>A, XM_006721996.5:c.5711C>A, XM_006721996.4:c.5807C>A, XM_006721996.3:c.5807C>A, XM_006721996.2:c.5711C>A, XM_006721996.1:c.5789C>A, XM_006721997.5:c.5561C>A, XM_006721997.4:c.5657C>A, XM_006721997.3:c.5657C>A, XM_006721997.2:c.5561C>A, XM_006721997.1:c.5639C>A, NM_018996.3:c.4964C>A, NM_001142640.2:c.5702C>A, NM_001142640.1:c.5072C>A, NM_001395509.1:c.5609C>A, NM_001395510.1:c.5585C>A, NM_001395512.1:c.4955C>A, XM_047436496.1:c.5141C>A, XM_047436485.1:c.5771C>A, XM_047436486.1:c.5762C>A, XM_047436487.1:c.5621C>A, XM_047436488.1:c.5612C>A, XM_047436489.1:c.5552C>A, NM_001395511.1:c.5096C>A, NM_001395508.1:c.5072C>A, XM_047436490.1:c.5444C>A, XM_047436491.1:c.5435C>A, XM_047436492.1:c.5414C>A, XM_047436493.1:c.5405C>A, XM_047436494.1:c.5297C>A, XM_047436495.1:c.5288C>A, XP_006722059.4:p.Ser1904Tyr, XP_006722060.4:p.Ser1854Tyr, NP_061869.2:p.Ser1655Tyr, NP_001136112.2:p.Ser1901Tyr, NP_001382438.1:p.Ser1870Tyr, NP_001382439.1:p.Ser1862Tyr, NP_001382441.1:p.Ser1652Tyr, XP_047292452.1:p.Ser1714Tyr, XP_047292441.1:p.Ser1924Tyr, XP_047292442.1:p.Ser1921Tyr, XP_047292443.1:p.Ser1874Tyr, XP_047292444.1:p.Ser1871Tyr, XP_047292445.1:p.Ser1851Tyr, NP_001382440.1:p.Ser1699Tyr, NP_001382437.1:p.Ser1691Tyr, XP_047292446.1:p.Ser1815Tyr, XP_047292447.1:p.Ser1812Tyr, XP_047292448.1:p.Ser1805Tyr, XP_047292449.1:p.Ser1802Tyr, XP_047292450.1:p.Ser1766Tyr, XP_047292451.1:p.Ser1763Tyr

                                  17.

                                  rs1481839237 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    17:78050667 (GRCh38)
                                    17:76046748 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:78050666:G:T
                                    Gene:
                                    TNRC6C (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000005/1 (GnomAD_exomes)
                                    T=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000017.11:g.78050667G>T, NC_000017.10:g.76046748G>T, XM_006721996.5:c.2235G>T, XM_006721996.4:c.2331G>T, XM_006721996.3:c.2331G>T, XM_006721996.2:c.2235G>T, XM_006721996.1:c.2313G>T, XM_006721997.5:c.2235G>T, XM_006721997.4:c.2331G>T, XM_006721997.3:c.2331G>T, XM_006721997.2:c.2235G>T, XM_006721997.1:c.2313G>T, NM_018996.3:c.1605G>T, NM_001142640.2:c.2235G>T, NM_001142640.1:c.1605G>T, NM_001395509.1:c.2235G>T, NM_001395510.1:c.2235G>T, NM_001395512.1:c.1605G>T, XM_047436496.1:c.1605G>T, XM_047436485.1:c.2235G>T, XM_047436486.1:c.2235G>T, XM_047436487.1:c.2235G>T, XM_047436488.1:c.2235G>T, XM_047436489.1:c.2235G>T, NM_001395511.1:c.1605G>T, NM_001395508.1:c.1605G>T, XM_047436490.1:c.2235G>T, XM_047436491.1:c.2235G>T, XM_047436492.1:c.2235G>T, XM_047436493.1:c.2235G>T, XM_047436494.1:c.2235G>T, XM_047436495.1:c.2235G>T

                                    18.

                                    rs1481219951 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:78051258 (GRCh38)
                                      17:76047339 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:78051257:G:A
                                      Gene:
                                      TNRC6C (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000017.11:g.78051258G>A, NC_000017.10:g.76047339G>A, XM_006721996.5:c.2826G>A, XM_006721996.4:c.2922G>A, XM_006721996.3:c.2922G>A, XM_006721996.2:c.2826G>A, XM_006721996.1:c.2904G>A, XM_006721997.5:c.2826G>A, XM_006721997.4:c.2922G>A, XM_006721997.3:c.2922G>A, XM_006721997.2:c.2826G>A, XM_006721997.1:c.2904G>A, NM_018996.3:c.2196G>A, NM_001142640.2:c.2826G>A, NM_001142640.1:c.2196G>A, NM_001395509.1:c.2826G>A, NM_001395510.1:c.2826G>A, NM_001395512.1:c.2196G>A, XM_047436496.1:c.2196G>A, XM_047436485.1:c.2826G>A, XM_047436486.1:c.2826G>A, XM_047436487.1:c.2826G>A, XM_047436488.1:c.2826G>A, XM_047436489.1:c.2826G>A, NM_001395511.1:c.2196G>A, NM_001395508.1:c.2196G>A, XM_047436490.1:c.2826G>A, XM_047436491.1:c.2826G>A, XM_047436492.1:c.2826G>A, XM_047436493.1:c.2826G>A, XM_047436494.1:c.2826G>A, XM_047436495.1:c.2826G>A

                                      19.

                                      rs1481161710 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        17:78050617 (GRCh38)
                                        17:76046698 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:78050616:G:A,NC_000017.11:78050616:G:C
                                        Gene:
                                        TNRC6C (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        C=0.000005/1 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.78050617G>A, NC_000017.11:g.78050617G>C, NC_000017.10:g.76046698G>A, NC_000017.10:g.76046698G>C, XM_006721996.5:c.2185G>A, XM_006721996.5:c.2185G>C, XM_006721996.4:c.2281G>A, XM_006721996.4:c.2281G>C, XM_006721996.3:c.2281G>A, XM_006721996.3:c.2281G>C, XM_006721996.2:c.2185G>A, XM_006721996.2:c.2185G>C, XM_006721996.1:c.2263G>A, XM_006721996.1:c.2263G>C, XM_006721997.5:c.2185G>A, XM_006721997.5:c.2185G>C, XM_006721997.4:c.2281G>A, XM_006721997.4:c.2281G>C, XM_006721997.3:c.2281G>A, XM_006721997.3:c.2281G>C, XM_006721997.2:c.2185G>A, XM_006721997.2:c.2185G>C, XM_006721997.1:c.2263G>A, XM_006721997.1:c.2263G>C, NM_018996.3:c.1555G>A, NM_018996.3:c.1555G>C, NM_001142640.2:c.2185G>A, NM_001142640.2:c.2185G>C, NM_001142640.1:c.1555G>A, NM_001142640.1:c.1555G>C, NM_001395509.1:c.2185G>A, NM_001395509.1:c.2185G>C, NM_001395510.1:c.2185G>A, NM_001395510.1:c.2185G>C, NM_001395512.1:c.1555G>A, NM_001395512.1:c.1555G>C, XM_047436496.1:c.1555G>A, XM_047436496.1:c.1555G>C, XM_047436485.1:c.2185G>A, XM_047436485.1:c.2185G>C, XM_047436486.1:c.2185G>A, XM_047436486.1:c.2185G>C, XM_047436487.1:c.2185G>A, XM_047436487.1:c.2185G>C, XM_047436488.1:c.2185G>A, XM_047436488.1:c.2185G>C, XM_047436489.1:c.2185G>A, XM_047436489.1:c.2185G>C, NM_001395511.1:c.1555G>A, NM_001395511.1:c.1555G>C, NM_001395508.1:c.1555G>A, NM_001395508.1:c.1555G>C, XM_047436490.1:c.2185G>A, XM_047436490.1:c.2185G>C, XM_047436491.1:c.2185G>A, XM_047436491.1:c.2185G>C, XM_047436492.1:c.2185G>A, XM_047436492.1:c.2185G>C, XM_047436493.1:c.2185G>A, XM_047436493.1:c.2185G>C, XM_047436494.1:c.2185G>A, XM_047436494.1:c.2185G>C, XM_047436495.1:c.2185G>A, XM_047436495.1:c.2185G>C, XP_006722059.4:p.Ala729Thr, XP_006722059.4:p.Ala729Pro, XP_006722060.4:p.Ala729Thr, XP_006722060.4:p.Ala729Pro, NP_061869.2:p.Ala519Thr, NP_061869.2:p.Ala519Pro, NP_001136112.2:p.Ala729Thr, NP_001136112.2:p.Ala729Pro, NP_001382438.1:p.Ala729Thr, NP_001382438.1:p.Ala729Pro, NP_001382439.1:p.Ala729Thr, NP_001382439.1:p.Ala729Pro, NP_001382441.1:p.Ala519Thr, NP_001382441.1:p.Ala519Pro, XP_047292452.1:p.Ala519Thr, XP_047292452.1:p.Ala519Pro, XP_047292441.1:p.Ala729Thr, XP_047292441.1:p.Ala729Pro, XP_047292442.1:p.Ala729Thr, XP_047292442.1:p.Ala729Pro, XP_047292443.1:p.Ala729Thr, XP_047292443.1:p.Ala729Pro, XP_047292444.1:p.Ala729Thr, XP_047292444.1:p.Ala729Pro, XP_047292445.1:p.Ala729Thr, XP_047292445.1:p.Ala729Pro, NP_001382440.1:p.Ala519Thr, NP_001382440.1:p.Ala519Pro, NP_001382437.1:p.Ala519Thr, NP_001382437.1:p.Ala519Pro, XP_047292446.1:p.Ala729Thr, XP_047292446.1:p.Ala729Pro, XP_047292447.1:p.Ala729Thr, XP_047292447.1:p.Ala729Pro, XP_047292448.1:p.Ala729Thr, XP_047292448.1:p.Ala729Pro, XP_047292449.1:p.Ala729Thr, XP_047292449.1:p.Ala729Pro, XP_047292450.1:p.Ala729Thr, XP_047292450.1:p.Ala729Pro, XP_047292451.1:p.Ala729Thr, XP_047292451.1:p.Ala729Pro

                                        20.

                                        rs1480946388 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:78049815 (GRCh38)
                                          17:76045896 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:78049814:G:A
                                          Gene:
                                          TNRC6C (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000017.11:g.78049815G>A, NC_000017.10:g.76045896G>A, XM_006721996.5:c.1383G>A, XM_006721996.4:c.1479G>A, XM_006721996.3:c.1479G>A, XM_006721996.2:c.1383G>A, XM_006721996.1:c.1461G>A, XM_006721997.5:c.1383G>A, XM_006721997.4:c.1479G>A, XM_006721997.3:c.1479G>A, XM_006721997.2:c.1383G>A, XM_006721997.1:c.1461G>A, NM_018996.3:c.753G>A, NM_001142640.2:c.1383G>A, NM_001142640.1:c.753G>A, NM_001395509.1:c.1383G>A, NM_001395510.1:c.1383G>A, NM_001395512.1:c.753G>A, XM_047436496.1:c.753G>A, XM_047436485.1:c.1383G>A, XM_047436486.1:c.1383G>A, XM_047436487.1:c.1383G>A, XM_047436488.1:c.1383G>A, XM_047436489.1:c.1383G>A, NM_001395511.1:c.753G>A, NM_001395508.1:c.753G>A, XM_047436490.1:c.1383G>A, XM_047436491.1:c.1383G>A, XM_047436492.1:c.1383G>A, XM_047436493.1:c.1383G>A, XM_047436494.1:c.1383G>A, XM_047436495.1:c.1383G>A

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