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 607

1.

rs1490923963 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:75891028 (GRCh38)
    17:73887109 (GRCh37)
    Canonical SPDI:
    NC_000017.11:75891027:C:T
    Gene:
    TRIM65 (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant,3_prime_UTR_variant,intron_variant
    HGVS:

    2.

    rs1490143105 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      17:75892286 (GRCh38)
      17:73888367 (GRCh37)
      Canonical SPDI:
      NC_000017.11:75892285:T:C
      Gene:
      TRIM65 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.75892286T>C, NC_000017.10:g.73888367T>C, XM_006721760.4:c.764A>G, XM_006721760.3:c.764A>G, XM_006721760.2:c.764A>G, XM_006721760.1:c.764A>G, NM_173547.4:c.725A>G, NM_173547.3:c.725A>G, XM_006721761.4:c.764A>G, XM_006721761.3:c.764A>G, XM_006721761.2:c.764A>G, XM_006721761.1:c.764A>G, XM_011524503.3:c.764A>G, XM_011524503.2:c.764A>G, XM_011524503.1:c.764A>G, XM_011524499.3:c.764A>G, XM_011524499.2:c.764A>G, XM_011524499.1:c.764A>G, XM_011524501.3:c.764A>G, XM_011524501.2:c.764A>G, XM_011524501.1:c.764A>G, XR_934419.3:n.778A>G, XR_934419.2:n.835A>G, XR_934419.1:n.824A>G, XM_011524500.3:c.764A>G, XM_011524500.2:c.764A>G, XM_011524500.1:c.764A>G, XM_011524502.3:c.764A>G, XM_011524502.2:c.764A>G, XM_011524502.1:c.764A>G, NM_001256124.2:c.725A>G, NM_001256124.1:c.725A>G, XM_017024344.2:c.725A>G, XM_017024344.1:c.725A>G, XM_047435580.1:c.764A>G, XM_047435581.1:c.725A>G, XM_047435583.1:c.725A>G, XM_047435584.1:c.725A>G, XM_047435585.1:c.725A>G, XP_006721823.1:p.Asp255Gly, NP_775818.2:p.Asp242Gly, XP_006721824.1:p.Asp255Gly, XP_011522805.1:p.Asp255Gly, XP_011522801.1:p.Asp255Gly, XP_011522803.1:p.Asp255Gly, XP_011522802.1:p.Asp255Gly, XP_011522804.1:p.Asp255Gly, NP_001243053.1:p.Asp242Gly, XP_016879833.1:p.Asp242Gly, XP_047291536.1:p.Asp255Gly, XP_047291537.1:p.Asp242Gly, XP_047291539.1:p.Asp242Gly, XP_047291540.1:p.Asp242Gly, XP_047291541.1:p.Asp242Gly

      3.

      rs1489884593 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:75892481 (GRCh38)
        17:73888562 (GRCh37)
        Canonical SPDI:
        NC_000017.11:75892480:G:A
        Gene:
        TRIM65 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0./0 (KOREAN)
        HGVS:
        NC_000017.11:g.75892481G>A, NC_000017.10:g.73888562G>A, XM_006721760.4:c.569C>T, XM_006721760.3:c.569C>T, XM_006721760.2:c.569C>T, XM_006721760.1:c.569C>T, NM_173547.4:c.530C>T, NM_173547.3:c.530C>T, XM_006721761.4:c.569C>T, XM_006721761.3:c.569C>T, XM_006721761.2:c.569C>T, XM_006721761.1:c.569C>T, XM_011524503.3:c.569C>T, XM_011524503.2:c.569C>T, XM_011524503.1:c.569C>T, XM_011524499.3:c.569C>T, XM_011524499.2:c.569C>T, XM_011524499.1:c.569C>T, XM_011524501.3:c.569C>T, XM_011524501.2:c.569C>T, XM_011524501.1:c.569C>T, XR_934419.3:n.583C>T, XR_934419.2:n.640C>T, XR_934419.1:n.629C>T, XM_011524500.3:c.569C>T, XM_011524500.2:c.569C>T, XM_011524500.1:c.569C>T, XM_011524502.3:c.569C>T, XM_011524502.2:c.569C>T, XM_011524502.1:c.569C>T, NM_001256124.2:c.530C>T, NM_001256124.1:c.530C>T, XM_017024344.2:c.530C>T, XM_017024344.1:c.530C>T, XM_047435580.1:c.569C>T, XM_047435581.1:c.530C>T, XM_047435583.1:c.530C>T, XM_047435584.1:c.530C>T, XM_047435585.1:c.530C>T, XP_006721823.1:p.Ala190Val, NP_775818.2:p.Ala177Val, XP_006721824.1:p.Ala190Val, XP_011522805.1:p.Ala190Val, XP_011522801.1:p.Ala190Val, XP_011522803.1:p.Ala190Val, XP_011522802.1:p.Ala190Val, XP_011522804.1:p.Ala190Val, NP_001243053.1:p.Ala177Val, XP_016879833.1:p.Ala177Val, XP_047291536.1:p.Ala190Val, XP_047291537.1:p.Ala177Val, XP_047291539.1:p.Ala177Val, XP_047291540.1:p.Ala177Val, XP_047291541.1:p.Ala177Val

        4.

        rs1488850129 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:75896637 (GRCh38)
          17:73892718 (GRCh37)
          Canonical SPDI:
          NC_000017.11:75896636:G:A
          Gene:
          TRIM65 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          HGVS:
          NC_000017.11:g.75896637G>A, NC_000017.10:g.73892718G>A, XM_006721760.4:c.301C>T, XM_006721760.3:c.301C>T, XM_006721760.2:c.301C>T, XM_006721760.1:c.301C>T, NM_173547.4:c.301C>T, NM_173547.3:c.301C>T, XM_006721761.4:c.301C>T, XM_006721761.3:c.301C>T, XM_006721761.2:c.301C>T, XM_006721761.1:c.301C>T, XM_011524503.3:c.301C>T, XM_011524503.2:c.301C>T, XM_011524503.1:c.301C>T, XM_011524499.3:c.301C>T, XM_011524499.2:c.301C>T, XM_011524499.1:c.301C>T, XM_011524501.3:c.301C>T, XM_011524501.2:c.301C>T, XM_011524501.1:c.301C>T, XR_934419.3:n.315C>T, XR_934419.2:n.372C>T, XR_934419.1:n.361C>T, XM_011524500.3:c.301C>T, XM_011524500.2:c.301C>T, XM_011524500.1:c.301C>T, XM_011524502.3:c.301C>T, XM_011524502.2:c.301C>T, XM_011524502.1:c.301C>T, NM_001256124.2:c.301C>T, NM_001256124.1:c.301C>T, XM_017024344.2:c.301C>T, XM_017024344.1:c.301C>T, XM_047435580.1:c.301C>T, XM_047435581.1:c.301C>T, XM_047435583.1:c.301C>T, XM_047435584.1:c.301C>T, XM_047435585.1:c.301C>T, XP_006721823.1:p.Pro101Ser, NP_775818.2:p.Pro101Ser, XP_006721824.1:p.Pro101Ser, XP_011522805.1:p.Pro101Ser, XP_011522801.1:p.Pro101Ser, XP_011522803.1:p.Pro101Ser, XP_011522802.1:p.Pro101Ser, XP_011522804.1:p.Pro101Ser, NP_001243053.1:p.Pro101Ser, XP_016879833.1:p.Pro101Ser, XP_047291536.1:p.Pro101Ser, XP_047291537.1:p.Pro101Ser, XP_047291539.1:p.Pro101Ser, XP_047291540.1:p.Pro101Ser, XP_047291541.1:p.Pro101Ser

          5.

          rs1484305856 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            17:75896790 (GRCh38)
            17:73892871 (GRCh37)
            Canonical SPDI:
            NC_000017.11:75896789:A:C
            Gene:
            TRIM65 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.75896790A>C, NC_000017.10:g.73892871A>C, XM_006721760.4:c.148T>G, XM_006721760.3:c.148T>G, XM_006721760.2:c.148T>G, XM_006721760.1:c.148T>G, NM_173547.4:c.148T>G, NM_173547.3:c.148T>G, XM_006721761.4:c.148T>G, XM_006721761.3:c.148T>G, XM_006721761.2:c.148T>G, XM_006721761.1:c.148T>G, XM_011524503.3:c.148T>G, XM_011524503.2:c.148T>G, XM_011524503.1:c.148T>G, XM_011524499.3:c.148T>G, XM_011524499.2:c.148T>G, XM_011524499.1:c.148T>G, XM_011524501.3:c.148T>G, XM_011524501.2:c.148T>G, XM_011524501.1:c.148T>G, XR_934419.3:n.162T>G, XR_934419.2:n.219T>G, XR_934419.1:n.208T>G, XM_011524500.3:c.148T>G, XM_011524500.2:c.148T>G, XM_011524500.1:c.148T>G, XM_011524502.3:c.148T>G, XM_011524502.2:c.148T>G, XM_011524502.1:c.148T>G, NM_001256124.2:c.148T>G, NM_001256124.1:c.148T>G, XM_017024344.2:c.148T>G, XM_017024344.1:c.148T>G, XM_047435580.1:c.148T>G, XM_047435581.1:c.148T>G, XM_047435583.1:c.148T>G, XM_047435584.1:c.148T>G, XM_047435585.1:c.148T>G, XP_006721823.1:p.Cys50Gly, NP_775818.2:p.Cys50Gly, XP_006721824.1:p.Cys50Gly, XP_011522805.1:p.Cys50Gly, XP_011522801.1:p.Cys50Gly, XP_011522803.1:p.Cys50Gly, XP_011522802.1:p.Cys50Gly, XP_011522804.1:p.Cys50Gly, NP_001243053.1:p.Cys50Gly, XP_016879833.1:p.Cys50Gly, XP_047291536.1:p.Cys50Gly, XP_047291537.1:p.Cys50Gly, XP_047291539.1:p.Cys50Gly, XP_047291540.1:p.Cys50Gly, XP_047291541.1:p.Cys50Gly

            6.

            rs1480771341 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:75891155 (GRCh38)
              17:73887236 (GRCh37)
              Canonical SPDI:
              NC_000017.11:75891154:T:C
              Gene:
              TRIM65 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0./0 (GnomAD)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1478550977 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                17:75896872 (GRCh38)
                17:73892953 (GRCh37)
                Canonical SPDI:
                NC_000017.11:75896871:T:A
                Gene:
                TRIM65 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000015/2 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.75896872T>A, NC_000017.10:g.73892953T>A, XM_006721760.4:c.66A>T, XM_006721760.3:c.66A>T, XM_006721760.2:c.66A>T, XM_006721760.1:c.66A>T, NM_173547.4:c.66A>T, NM_173547.3:c.66A>T, XM_006721761.4:c.66A>T, XM_006721761.3:c.66A>T, XM_006721761.2:c.66A>T, XM_006721761.1:c.66A>T, XM_011524503.3:c.66A>T, XM_011524503.2:c.66A>T, XM_011524503.1:c.66A>T, XM_011524499.3:c.66A>T, XM_011524499.2:c.66A>T, XM_011524499.1:c.66A>T, XM_011524501.3:c.66A>T, XM_011524501.2:c.66A>T, XM_011524501.1:c.66A>T, XR_934419.3:n.80A>T, XR_934419.2:n.137A>T, XR_934419.1:n.126A>T, XM_011524500.3:c.66A>T, XM_011524500.2:c.66A>T, XM_011524500.1:c.66A>T, XM_011524502.3:c.66A>T, XM_011524502.2:c.66A>T, XM_011524502.1:c.66A>T, NM_001256124.2:c.66A>T, NM_001256124.1:c.66A>T, XM_017024344.2:c.66A>T, XM_017024344.1:c.66A>T, XM_047435580.1:c.66A>T, XM_047435581.1:c.66A>T, XM_047435583.1:c.66A>T, XM_047435584.1:c.66A>T, XM_047435585.1:c.66A>T

                8.

                rs1476966961 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,T [Show Flanks]
                  Chromosome:
                  17:75896921 (GRCh38)
                  17:73893002 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:75896920:A:C,NC_000017.11:75896920:A:T
                  Gene:
                  TRIM65 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000017.11:g.75896921A>C, NC_000017.11:g.75896921A>T, NC_000017.10:g.73893002A>C, NC_000017.10:g.73893002A>T, XM_006721760.4:c.17T>G, XM_006721760.4:c.17T>A, XM_006721760.3:c.17T>G, XM_006721760.3:c.17T>A, XM_006721760.2:c.17T>G, XM_006721760.2:c.17T>A, XM_006721760.1:c.17T>G, XM_006721760.1:c.17T>A, NM_173547.4:c.17T>G, NM_173547.4:c.17T>A, NM_173547.3:c.17T>G, NM_173547.3:c.17T>A, XM_006721761.4:c.17T>G, XM_006721761.4:c.17T>A, XM_006721761.3:c.17T>G, XM_006721761.3:c.17T>A, XM_006721761.2:c.17T>G, XM_006721761.2:c.17T>A, XM_006721761.1:c.17T>G, XM_006721761.1:c.17T>A, XM_011524503.3:c.17T>G, XM_011524503.3:c.17T>A, XM_011524503.2:c.17T>G, XM_011524503.2:c.17T>A, XM_011524503.1:c.17T>G, XM_011524503.1:c.17T>A, XM_011524499.3:c.17T>G, XM_011524499.3:c.17T>A, XM_011524499.2:c.17T>G, XM_011524499.2:c.17T>A, XM_011524499.1:c.17T>G, XM_011524499.1:c.17T>A, XM_011524501.3:c.17T>G, XM_011524501.3:c.17T>A, XM_011524501.2:c.17T>G, XM_011524501.2:c.17T>A, XM_011524501.1:c.17T>G, XM_011524501.1:c.17T>A, XR_934419.3:n.31T>G, XR_934419.3:n.31T>A, XR_934419.2:n.88T>G, XR_934419.2:n.88T>A, XR_934419.1:n.77T>G, XR_934419.1:n.77T>A, XM_011524500.3:c.17T>G, XM_011524500.3:c.17T>A, XM_011524500.2:c.17T>G, XM_011524500.2:c.17T>A, XM_011524500.1:c.17T>G, XM_011524500.1:c.17T>A, XM_011524502.3:c.17T>G, XM_011524502.3:c.17T>A, XM_011524502.2:c.17T>G, XM_011524502.2:c.17T>A, XM_011524502.1:c.17T>G, XM_011524502.1:c.17T>A, NM_001256124.2:c.17T>G, NM_001256124.2:c.17T>A, NM_001256124.1:c.17T>G, NM_001256124.1:c.17T>A, XM_017024344.2:c.17T>G, XM_017024344.2:c.17T>A, XM_017024344.1:c.17T>G, XM_017024344.1:c.17T>A, XM_047435580.1:c.17T>G, XM_047435580.1:c.17T>A, XM_047435581.1:c.17T>G, XM_047435581.1:c.17T>A, XM_047435583.1:c.17T>G, XM_047435583.1:c.17T>A, XM_047435584.1:c.17T>G, XM_047435584.1:c.17T>A, XM_047435585.1:c.17T>G, XM_047435585.1:c.17T>A, XP_006721823.1:p.Leu6Arg, XP_006721823.1:p.Leu6Gln, NP_775818.2:p.Leu6Arg, NP_775818.2:p.Leu6Gln, XP_006721824.1:p.Leu6Arg, XP_006721824.1:p.Leu6Gln, XP_011522805.1:p.Leu6Arg, XP_011522805.1:p.Leu6Gln, XP_011522801.1:p.Leu6Arg, XP_011522801.1:p.Leu6Gln, XP_011522803.1:p.Leu6Arg, XP_011522803.1:p.Leu6Gln, XP_011522802.1:p.Leu6Arg, XP_011522802.1:p.Leu6Gln, XP_011522804.1:p.Leu6Arg, XP_011522804.1:p.Leu6Gln, NP_001243053.1:p.Leu6Arg, NP_001243053.1:p.Leu6Gln, XP_016879833.1:p.Leu6Arg, XP_016879833.1:p.Leu6Gln, XP_047291536.1:p.Leu6Arg, XP_047291536.1:p.Leu6Gln, XP_047291537.1:p.Leu6Arg, XP_047291537.1:p.Leu6Gln, XP_047291539.1:p.Leu6Arg, XP_047291539.1:p.Leu6Gln, XP_047291540.1:p.Leu6Arg, XP_047291540.1:p.Leu6Gln, XP_047291541.1:p.Leu6Arg, XP_047291541.1:p.Leu6Gln

                  9.

                  rs1476315376 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:75892066 (GRCh38)
                    17:73888147 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:75892065:C:T
                    Gene:
                    TRIM65 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000028/1 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1475911763 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:75890905 (GRCh38)
                      17:73886986 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:75890904:G:A
                      Gene:
                      TRIM65 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                      HGVS:

                      11.

                      rs1475338205 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        17:75892428 (GRCh38)
                        17:73888509 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:75892427:G:C
                        Gene:
                        TRIM65 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.75892428G>C, NC_000017.10:g.73888509G>C, XM_006721760.4:c.622C>G, XM_006721760.3:c.622C>G, XM_006721760.2:c.622C>G, XM_006721760.1:c.622C>G, NM_173547.4:c.583C>G, NM_173547.3:c.583C>G, XM_006721761.4:c.622C>G, XM_006721761.3:c.622C>G, XM_006721761.2:c.622C>G, XM_006721761.1:c.622C>G, XM_011524503.3:c.622C>G, XM_011524503.2:c.622C>G, XM_011524503.1:c.622C>G, XM_011524499.3:c.622C>G, XM_011524499.2:c.622C>G, XM_011524499.1:c.622C>G, XM_011524501.3:c.622C>G, XM_011524501.2:c.622C>G, XM_011524501.1:c.622C>G, XR_934419.3:n.636C>G, XR_934419.2:n.693C>G, XR_934419.1:n.682C>G, XM_011524500.3:c.622C>G, XM_011524500.2:c.622C>G, XM_011524500.1:c.622C>G, XM_011524502.3:c.622C>G, XM_011524502.2:c.622C>G, XM_011524502.1:c.622C>G, NM_001256124.2:c.583C>G, NM_001256124.1:c.583C>G, XM_017024344.2:c.583C>G, XM_017024344.1:c.583C>G, XM_047435580.1:c.622C>G, XM_047435581.1:c.583C>G, XM_047435583.1:c.583C>G, XM_047435584.1:c.583C>G, XM_047435585.1:c.583C>G, XP_006721823.1:p.His208Asp, NP_775818.2:p.His195Asp, XP_006721824.1:p.His208Asp, XP_011522805.1:p.His208Asp, XP_011522801.1:p.His208Asp, XP_011522803.1:p.His208Asp, XP_011522802.1:p.His208Asp, XP_011522804.1:p.His208Asp, NP_001243053.1:p.His195Asp, XP_016879833.1:p.His195Asp, XP_047291536.1:p.His208Asp, XP_047291537.1:p.His195Asp, XP_047291539.1:p.His195Asp, XP_047291540.1:p.His195Asp, XP_047291541.1:p.His195Asp

                        12.

                        rs1472018830 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:75896773 (GRCh38)
                          17:73892854 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:75896772:G:A
                          Gene:
                          TRIM65 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                          HGVS:
                          NC_000017.11:g.75896773G>A, NC_000017.10:g.73892854G>A, XM_006721760.4:c.165C>T, XM_006721760.3:c.165C>T, XM_006721760.2:c.165C>T, XM_006721760.1:c.165C>T, NM_173547.4:c.165C>T, NM_173547.3:c.165C>T, XM_006721761.4:c.165C>T, XM_006721761.3:c.165C>T, XM_006721761.2:c.165C>T, XM_006721761.1:c.165C>T, XM_011524503.3:c.165C>T, XM_011524503.2:c.165C>T, XM_011524503.1:c.165C>T, XM_011524499.3:c.165C>T, XM_011524499.2:c.165C>T, XM_011524499.1:c.165C>T, XM_011524501.3:c.165C>T, XM_011524501.2:c.165C>T, XM_011524501.1:c.165C>T, XR_934419.3:n.179C>T, XR_934419.2:n.236C>T, XR_934419.1:n.225C>T, XM_011524500.3:c.165C>T, XM_011524500.2:c.165C>T, XM_011524500.1:c.165C>T, XM_011524502.3:c.165C>T, XM_011524502.2:c.165C>T, XM_011524502.1:c.165C>T, NM_001256124.2:c.165C>T, NM_001256124.1:c.165C>T, XM_017024344.2:c.165C>T, XM_017024344.1:c.165C>T, XM_047435580.1:c.165C>T, XM_047435581.1:c.165C>T, XM_047435583.1:c.165C>T, XM_047435584.1:c.165C>T, XM_047435585.1:c.165C>T

                          13.

                          rs1470314499 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            17:75891242 (GRCh38)
                            17:73887323 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:75891241:C:A
                            Gene:
                            TRIM65 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1469457084 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              17:75891171 (GRCh38)
                              17:73887252 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:75891170:C:A,NC_000017.11:75891170:C:G
                              Gene:
                              TRIM65 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000034/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.75891171C>A, NC_000017.11:g.75891171C>G, NC_000017.10:g.73887252C>A, NC_000017.10:g.73887252C>G, XM_006721760.4:c.1201G>T, XM_006721760.4:c.1201G>C, XM_006721760.3:c.1201G>T, XM_006721760.3:c.1201G>C, XM_006721760.2:c.1201G>T, XM_006721760.2:c.1201G>C, XM_006721760.1:c.1201G>T, XM_006721760.1:c.1201G>C, NM_173547.4:c.1162G>T, NM_173547.4:c.1162G>C, NM_173547.3:c.1162G>T, NM_173547.3:c.1162G>C, XM_006721761.4:c.1135G>T, XM_006721761.4:c.1135G>C, XM_006721761.3:c.1135G>T, XM_006721761.3:c.1135G>C, XM_006721761.2:c.1135G>T, XM_006721761.2:c.1135G>C, XM_006721761.1:c.1135G>T, XM_006721761.1:c.1135G>C, XM_011524503.3:c.*162G>T, XM_011524503.3:c.*162G>C, NM_001256124.2:c.1096G>T, NM_001256124.2:c.1096G>C, NM_001256124.1:c.1096G>T, NM_001256124.1:c.1096G>C, XM_017024344.2:c.*162G>T, XM_017024344.2:c.*162G>C, XM_017024344.1:c.*162G>T, XM_017024344.1:c.*162G>C, XM_047435580.1:c.1333G>T, XM_047435580.1:c.1333G>C, XM_047435581.1:c.1294G>T, XM_047435581.1:c.1294G>C, XP_006721823.1:p.Val401Leu, XP_006721823.1:p.Val401Leu, NP_775818.2:p.Val388Leu, NP_775818.2:p.Val388Leu, XP_006721824.1:p.Val379Leu, XP_006721824.1:p.Val379Leu, NP_001243053.1:p.Val366Leu, NP_001243053.1:p.Val366Leu, XP_047291536.1:p.Val445Leu, XP_047291536.1:p.Val445Leu, XP_047291537.1:p.Val432Leu, XP_047291537.1:p.Val432Leu

                              15.

                              rs1467876783 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                17:75890931 (GRCh38)
                                17:73887012 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:75890930:C:A,NC_000017.11:75890930:C:T
                                Gene:
                                TRIM65 (Varview)
                                Functional Consequence:
                                stop_gained,missense_variant,3_prime_UTR_variant,intron_variant,coding_sequence_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.75890931C>A, NC_000017.11:g.75890931C>T, NC_000017.10:g.73887012C>A, NC_000017.10:g.73887012C>T, XM_006721760.4:c.1441G>T, XM_006721760.4:c.1441G>A, XM_006721760.3:c.1441G>T, XM_006721760.3:c.1441G>A, XM_006721760.2:c.1441G>T, XM_006721760.2:c.1441G>A, XM_006721760.1:c.1441G>T, XM_006721760.1:c.1441G>A, NM_173547.4:c.1402G>T, NM_173547.4:c.1402G>A, NM_173547.3:c.1402G>T, NM_173547.3:c.1402G>A, XM_006721761.4:c.1375G>T, XM_006721761.4:c.1375G>A, XM_006721761.3:c.1375G>T, XM_006721761.3:c.1375G>A, XM_006721761.2:c.1375G>T, XM_006721761.2:c.1375G>A, XM_006721761.1:c.1375G>T, XM_006721761.1:c.1375G>A, XM_011524503.3:c.*402G>T, XM_011524503.3:c.*402G>A, NM_001256124.2:c.1336G>T, NM_001256124.2:c.1336G>A, NM_001256124.1:c.1336G>T, NM_001256124.1:c.1336G>A, XM_017024344.2:c.*402G>T, XM_017024344.2:c.*402G>A, XM_017024344.1:c.*402G>T, XM_017024344.1:c.*402G>A, XM_047435580.1:c.1573G>T, XM_047435580.1:c.1573G>A, XM_047435581.1:c.1534G>T, XM_047435581.1:c.1534G>A, XP_006721823.1:p.Glu481Ter, XP_006721823.1:p.Glu481Lys, NP_775818.2:p.Glu468Ter, NP_775818.2:p.Glu468Lys, XP_006721824.1:p.Glu459Ter, XP_006721824.1:p.Glu459Lys, NP_001243053.1:p.Glu446Ter, NP_001243053.1:p.Glu446Lys, XP_047291536.1:p.Glu525Ter, XP_047291536.1:p.Glu525Lys, XP_047291537.1:p.Glu512Ter, XP_047291537.1:p.Glu512Lys

                                16.

                                rs1467114143 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  17:75896796 (GRCh38)
                                  17:73892877 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:75896795:G:C
                                  Gene:
                                  TRIM65 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.75896796G>C, NC_000017.10:g.73892877G>C, XM_006721760.4:c.142C>G, XM_006721760.3:c.142C>G, XM_006721760.2:c.142C>G, XM_006721760.1:c.142C>G, NM_173547.4:c.142C>G, NM_173547.3:c.142C>G, XM_006721761.4:c.142C>G, XM_006721761.3:c.142C>G, XM_006721761.2:c.142C>G, XM_006721761.1:c.142C>G, XM_011524503.3:c.142C>G, XM_011524503.2:c.142C>G, XM_011524503.1:c.142C>G, XM_011524499.3:c.142C>G, XM_011524499.2:c.142C>G, XM_011524499.1:c.142C>G, XM_011524501.3:c.142C>G, XM_011524501.2:c.142C>G, XM_011524501.1:c.142C>G, XR_934419.3:n.156C>G, XR_934419.2:n.213C>G, XR_934419.1:n.202C>G, XM_011524500.3:c.142C>G, XM_011524500.2:c.142C>G, XM_011524500.1:c.142C>G, XM_011524502.3:c.142C>G, XM_011524502.2:c.142C>G, XM_011524502.1:c.142C>G, NM_001256124.2:c.142C>G, NM_001256124.1:c.142C>G, XM_017024344.2:c.142C>G, XM_017024344.1:c.142C>G, XM_047435580.1:c.142C>G, XM_047435581.1:c.142C>G, XM_047435583.1:c.142C>G, XM_047435584.1:c.142C>G, XM_047435585.1:c.142C>G, XP_006721823.1:p.Pro48Ala, NP_775818.2:p.Pro48Ala, XP_006721824.1:p.Pro48Ala, XP_011522805.1:p.Pro48Ala, XP_011522801.1:p.Pro48Ala, XP_011522803.1:p.Pro48Ala, XP_011522802.1:p.Pro48Ala, XP_011522804.1:p.Pro48Ala, NP_001243053.1:p.Pro48Ala, XP_016879833.1:p.Pro48Ala, XP_047291536.1:p.Pro48Ala, XP_047291537.1:p.Pro48Ala, XP_047291539.1:p.Pro48Ala, XP_047291540.1:p.Pro48Ala, XP_047291541.1:p.Pro48Ala

                                  17.

                                  rs1464443352 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:75890959 (GRCh38)
                                    17:73887040 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:75890958:G:A
                                    Gene:
                                    TRIM65 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000012/2 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1461673720 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:75896787 (GRCh38)
                                      17:73892868 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:75896786:G:A
                                      Gene:
                                      TRIM65 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.75896787G>A, NC_000017.10:g.73892868G>A, XM_006721760.4:c.151C>T, XM_006721760.3:c.151C>T, XM_006721760.2:c.151C>T, XM_006721760.1:c.151C>T, NM_173547.4:c.151C>T, NM_173547.3:c.151C>T, XM_006721761.4:c.151C>T, XM_006721761.3:c.151C>T, XM_006721761.2:c.151C>T, XM_006721761.1:c.151C>T, XM_011524503.3:c.151C>T, XM_011524503.2:c.151C>T, XM_011524503.1:c.151C>T, XM_011524499.3:c.151C>T, XM_011524499.2:c.151C>T, XM_011524499.1:c.151C>T, XM_011524501.3:c.151C>T, XM_011524501.2:c.151C>T, XM_011524501.1:c.151C>T, XR_934419.3:n.165C>T, XR_934419.2:n.222C>T, XR_934419.1:n.211C>T, XM_011524500.3:c.151C>T, XM_011524500.2:c.151C>T, XM_011524500.1:c.151C>T, XM_011524502.3:c.151C>T, XM_011524502.2:c.151C>T, XM_011524502.1:c.151C>T, NM_001256124.2:c.151C>T, NM_001256124.1:c.151C>T, XM_017024344.2:c.151C>T, XM_017024344.1:c.151C>T, XM_047435580.1:c.151C>T, XM_047435581.1:c.151C>T, XM_047435583.1:c.151C>T, XM_047435584.1:c.151C>T, XM_047435585.1:c.151C>T, XP_006721823.1:p.Arg51Trp, NP_775818.2:p.Arg51Trp, XP_006721824.1:p.Arg51Trp, XP_011522805.1:p.Arg51Trp, XP_011522801.1:p.Arg51Trp, XP_011522803.1:p.Arg51Trp, XP_011522802.1:p.Arg51Trp, XP_011522804.1:p.Arg51Trp, NP_001243053.1:p.Arg51Trp, XP_016879833.1:p.Arg51Trp, XP_047291536.1:p.Arg51Trp, XP_047291537.1:p.Arg51Trp, XP_047291539.1:p.Arg51Trp, XP_047291540.1:p.Arg51Trp, XP_047291541.1:p.Arg51Trp

                                      19.

                                      rs1460638675 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        17:75892132 (GRCh38)
                                        17:73888213 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:75892131:C:A
                                        Gene:
                                        TRIM65 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000028/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.75892132C>A, NC_000017.10:g.73888213C>A, XM_006721760.4:c.837G>T, XM_006721760.3:c.837G>T, XM_006721760.2:c.837G>T, XM_006721760.1:c.837G>T, NM_173547.4:c.798G>T, NM_173547.3:c.798G>T, XM_006721761.4:c.837G>T, XM_006721761.3:c.837G>T, XM_006721761.2:c.837G>T, XM_006721761.1:c.837G>T, XM_011524499.3:c.837G>T, XM_011524499.2:c.837G>T, XM_011524499.1:c.837G>T, XM_011524501.3:c.837G>T, XM_011524501.2:c.837G>T, XM_011524501.1:c.837G>T, XM_011524500.3:c.837G>T, XM_011524500.2:c.837G>T, XM_011524500.1:c.837G>T, XM_011524502.3:c.837G>T, XM_011524502.2:c.837G>T, XM_011524502.1:c.837G>T, NM_001256124.2:c.798G>T, NM_001256124.1:c.798G>T, XM_047435580.1:c.837G>T, XM_047435581.1:c.798G>T, XM_047435583.1:c.798G>T, XM_047435584.1:c.798G>T, XM_047435585.1:c.798G>T, XP_006721823.1:p.Gln279His, NP_775818.2:p.Gln266His, XP_006721824.1:p.Gln279His, XP_011522801.1:p.Gln279His, XP_011522803.1:p.Gln279His, XP_011522802.1:p.Gln279His, XP_011522804.1:p.Gln279His, NP_001243053.1:p.Gln266His, XP_047291536.1:p.Gln279His, XP_047291537.1:p.Gln266His, XP_047291539.1:p.Gln266His, XP_047291540.1:p.Gln266His, XP_047291541.1:p.Gln266His

                                        20.

                                        rs1460174292 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          17:75890876 (GRCh38)
                                          17:73886957 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:75890875:G:A,NC_000017.11:75890875:G:T
                                          Gene:
                                          TRIM65 (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000017.11:g.75890876G>A, NC_000017.11:g.75890876G>T, NC_000017.10:g.73886957G>A, NC_000017.10:g.73886957G>T, XM_006721760.4:c.1496C>T, XM_006721760.4:c.1496C>A, XM_006721760.3:c.1496C>T, XM_006721760.3:c.1496C>A, XM_006721760.2:c.1496C>T, XM_006721760.2:c.1496C>A, XM_006721760.1:c.1496C>T, XM_006721760.1:c.1496C>A, NM_173547.4:c.1457C>T, NM_173547.4:c.1457C>A, NM_173547.3:c.1457C>T, NM_173547.3:c.1457C>A, XM_006721761.4:c.1430C>T, XM_006721761.4:c.1430C>A, XM_006721761.3:c.1430C>T, XM_006721761.3:c.1430C>A, XM_006721761.2:c.1430C>T, XM_006721761.2:c.1430C>A, XM_006721761.1:c.1430C>T, XM_006721761.1:c.1430C>A, XM_011524503.3:c.*457C>T, XM_011524503.3:c.*457C>A, NM_001256124.2:c.1391C>T, NM_001256124.2:c.1391C>A, NM_001256124.1:c.1391C>T, NM_001256124.1:c.1391C>A, XM_017024344.2:c.*457C>T, XM_017024344.2:c.*457C>A, XM_017024344.1:c.*457C>T, XM_017024344.1:c.*457C>A, XM_047435580.1:c.1628C>T, XM_047435580.1:c.1628C>A, XM_047435581.1:c.1589C>T, XM_047435581.1:c.1589C>A, XP_006721823.1:p.Thr499Ile, XP_006721823.1:p.Thr499Asn, NP_775818.2:p.Thr486Ile, NP_775818.2:p.Thr486Asn, XP_006721824.1:p.Thr477Ile, XP_006721824.1:p.Thr477Asn, NP_001243053.1:p.Thr464Ile, NP_001243053.1:p.Thr464Asn, XP_047291536.1:p.Thr543Ile, XP_047291536.1:p.Thr543Asn, XP_047291537.1:p.Thr530Ile, XP_047291537.1:p.Thr530Asn

                                          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...