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Items: 1 to 20 of 331

1.

rs1488544109 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    1:161549718 (GRCh38)
    1:161519508 (GRCh37)
    Canonical SPDI:
    NC_000001.11:161549717:G:A,NC_000001.11:161549717:G:C
    Gene:
    FCGR3A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.161549718G>A, NC_000001.11:g.161549718G>C, NC_000001.10:g.161519508G>A, NC_000001.10:g.161519508G>C, NG_009066.1:g.5906C>T, NG_009066.1:g.5906C>G, NM_000569.8:c.19C>T, NM_000569.8:c.19C>G, NM_000569.7:c.334C>T, NM_000569.7:c.334C>G, NM_000569.6:c.127C>T, NM_000569.6:c.127C>G, NM_001127592.2:c.334C>T, NM_001127592.2:c.334C>G, NM_001127592.1:c.127C>T, NM_001127592.1:c.127C>G, NM_001329120.2:c.19C>T, NM_001329120.2:c.19C>G, NM_001329120.1:c.19C>T, NM_001329120.1:c.19C>G, NM_001127595.2:c.19C>T, NM_001127595.2:c.19C>G, NM_001127595.1:c.19C>T, NM_001127595.1:c.19C>G, NM_001127596.2:c.19C>T, NM_001127596.2:c.19C>G, NM_001127596.1:c.19C>T, NM_001127596.1:c.19C>G, NM_001127593.1:c.19C>T, NM_001127593.1:c.19C>G, NM_001386450.1:c.19C>T, NM_001386450.1:c.19C>G, NM_001329122.1:c.334C>T, NM_001329122.1:c.334C>G, XM_047449443.1:c.106C>T, XM_047449443.1:c.106C>G, XM_047449444.1:c.88C>T, XM_047449444.1:c.88C>G, NP_000560.7:p.Pro7Ser, NP_000560.7:p.Pro7Ala, NP_001121064.2:p.Pro112Ser, NP_001121064.2:p.Pro112Ala, NP_001316049.1:p.Pro7Ser, NP_001316049.1:p.Pro7Ala, NP_001121067.1:p.Pro7Ser, NP_001121067.1:p.Pro7Ala, NP_001121068.1:p.Pro7Ser, NP_001121068.1:p.Pro7Ala, NP_001121065.1:p.Pro7Ser, NP_001121065.1:p.Pro7Ala, NP_001373379.1:p.Pro7Ser, NP_001373379.1:p.Pro7Ala, NP_001316051.1:p.Pro112Ser, NP_001316051.1:p.Pro112Ala, XP_047305399.1:p.Pro36Ser, XP_047305399.1:p.Pro36Ala, XP_047305400.1:p.Pro30Ser, XP_047305400.1:p.Pro30Ala
    3.

    rs1488040908 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      1:161549840 (GRCh38)
      1:161519630 (GRCh37)
      Canonical SPDI:
      NC_000001.11:161549839:C:A,NC_000001.11:161549839:C:T
      Gene:
      FCGR3A (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      HGVS:
      5.

      rs1478743415 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        1:161549854 (GRCh38)
        1:161519644 (GRCh37)
        Canonical SPDI:
        NC_000001.11:161549853:C:G,NC_000001.11:161549853:C:T
        Gene:
        FCGR3A (Varview)
        Functional Consequence:
        stop_gained,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000094/1 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        7.

        rs1470436434 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:161550028 (GRCh38)
          1:161519818 (GRCh37)
          Canonical SPDI:
          NC_000001.11:161550027:C:T
          Gene:
          FCGR3A (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          T=0.001667/1 (NorthernSweden)
          HGVS:
          9.

          rs1465500012 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            1:161549870 (GRCh38)
            1:161519660 (GRCh37)
            Canonical SPDI:
            NC_000001.11:161549869:C:G
            Gene:
            FCGR3A (Varview)
            Functional Consequence:
            upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            10.

            rs1459175202 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:161550011 (GRCh38)
              1:161519801 (GRCh37)
              Canonical SPDI:
              NC_000001.11:161550010:G:A
              Gene:
              FCGR3A (Varview)
              Functional Consequence:
              upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              11.

              rs1457221148 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                1:161549918 (GRCh38)
                1:161519708 (GRCh37)
                Canonical SPDI:
                NC_000001.11:161549917:C:A,NC_000001.11:161549917:C:T
                Gene:
                FCGR3A (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                12.

                rs1456001775 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  1:161549942 (GRCh38)
                  1:161519732 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:161549941:AAA:AA
                  Gene:
                  FCGR3A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AA=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  14.

                  rs1446856707 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    1:161549975 (GRCh38)
                    1:161519765 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:161549974:C:A,NC_000001.11:161549974:C:T
                    Gene:
                    FCGR3A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    15.

                    rs1445330608 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      1:161548529 (GRCh38)
                      1:161518319 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:161548528:C:A,NC_000001.11:161548528:C:T
                      Gene:
                      FCGR3A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.161548529C>A, NC_000001.11:g.161548529C>T, NC_000001.10:g.161518319C>A, NC_000001.10:g.161518319C>T, NG_009066.1:g.7095G>T, NG_009066.1:g.7095G>A, NM_000569.8:c.211G>T, NM_000569.8:c.211G>A, NM_000569.7:c.526G>T, NM_000569.7:c.526G>A, NM_000569.6:c.319G>T, NM_000569.6:c.319G>A, NM_001127592.2:c.523G>T, NM_001127592.2:c.523G>A, NM_001127592.1:c.316G>T, NM_001127592.1:c.316G>A, NM_001329120.2:c.211G>T, NM_001329120.2:c.211G>A, NM_001329120.1:c.211G>T, NM_001329120.1:c.211G>A, NM_001127595.2:c.211G>T, NM_001127595.2:c.211G>A, NM_001127595.1:c.211G>T, NM_001127595.1:c.211G>A, NM_001127596.2:c.208G>T, NM_001127596.2:c.208G>A, NM_001127596.1:c.208G>T, NM_001127596.1:c.208G>A, NM_001127593.1:c.211G>T, NM_001127593.1:c.211G>A, NM_001386450.1:c.208G>T, NM_001386450.1:c.208G>A, NM_001329122.1:c.526G>T, NM_001329122.1:c.526G>A, XM_047449443.1:c.298G>T, XM_047449443.1:c.298G>A, XM_047449444.1:c.280G>T, XM_047449444.1:c.280G>A, NP_000560.7:p.Ala71Ser, NP_000560.7:p.Ala71Thr, NP_001121064.2:p.Ala175Ser, NP_001121064.2:p.Ala175Thr, NP_001316049.1:p.Ala71Ser, NP_001316049.1:p.Ala71Thr, NP_001121067.1:p.Ala71Ser, NP_001121067.1:p.Ala71Thr, NP_001121068.1:p.Ala70Ser, NP_001121068.1:p.Ala70Thr, NP_001121065.1:p.Ala71Ser, NP_001121065.1:p.Ala71Thr, NP_001373379.1:p.Ala70Ser, NP_001373379.1:p.Ala70Thr, NP_001316051.1:p.Ala176Ser, NP_001316051.1:p.Ala176Thr, XP_047305399.1:p.Ala100Ser, XP_047305399.1:p.Ala100Thr, XP_047305400.1:p.Ala94Ser, XP_047305400.1:p.Ala94Thr
                      16.

                      rs1441801397 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:161549722 (GRCh38)
                        1:161519512 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:161549721:G:A
                        Gene:
                        FCGR3A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000028/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000023/6 (TOPMED)
                        A=0.000043/6 (GnomAD)
                        HGVS:
                        17.

                        rs1438353376 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:161549970 (GRCh38)
                          1:161519760 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:161549969:C:G
                          Gene:
                          FCGR3A (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000035/1 (TOMMO)
                          G=0.000045/12 (TOPMED)
                          G=0.000079/11 (GnomAD)
                          G=0.000156/1 (1000Genomes)
                          G=0.000342/1 (KOREAN)
                          HGVS:
                          19.

                          rs1432441073 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            1:161548633 (GRCh38)
                            1:161518423 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:161548632:C:A,NC_000001.11:161548632:C:T
                            Gene:
                            FCGR3A (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.161548633C>A, NC_000001.11:g.161548633C>T, NC_000001.10:g.161518423C>A, NC_000001.10:g.161518423C>T, NG_009066.1:g.6991G>T, NG_009066.1:g.6991G>A, NM_000569.8:c.107G>T, NM_000569.8:c.107G>A, NM_000569.7:c.422G>T, NM_000569.7:c.422G>A, NM_000569.6:c.215G>T, NM_000569.6:c.215G>A, NM_001127592.2:c.419G>T, NM_001127592.2:c.419G>A, NM_001127592.1:c.212G>T, NM_001127592.1:c.212G>A, NM_001329120.2:c.107G>T, NM_001329120.2:c.107G>A, NM_001329120.1:c.107G>T, NM_001329120.1:c.107G>A, NM_001127595.2:c.107G>T, NM_001127595.2:c.107G>A, NM_001127595.1:c.107G>T, NM_001127595.1:c.107G>A, NM_001127596.2:c.104G>T, NM_001127596.2:c.104G>A, NM_001127596.1:c.104G>T, NM_001127596.1:c.104G>A, NM_001127593.1:c.107G>T, NM_001127593.1:c.107G>A, NM_001386450.1:c.104G>T, NM_001386450.1:c.104G>A, NM_001329122.1:c.422G>T, NM_001329122.1:c.422G>A, XM_047449443.1:c.194G>T, XM_047449443.1:c.194G>A, XM_047449444.1:c.176G>T, XM_047449444.1:c.176G>A, NP_000560.7:p.Arg36Met, NP_000560.7:p.Arg36Lys, NP_001121064.2:p.Arg140Met, NP_001121064.2:p.Arg140Lys, NP_001316049.1:p.Arg36Met, NP_001316049.1:p.Arg36Lys, NP_001121067.1:p.Arg36Met, NP_001121067.1:p.Arg36Lys, NP_001121068.1:p.Arg35Met, NP_001121068.1:p.Arg35Lys, NP_001121065.1:p.Arg36Met, NP_001121065.1:p.Arg36Lys, NP_001373379.1:p.Arg35Met, NP_001373379.1:p.Arg35Lys, NP_001316051.1:p.Arg141Met, NP_001316051.1:p.Arg141Lys, XP_047305399.1:p.Arg65Met, XP_047305399.1:p.Arg65Lys, XP_047305400.1:p.Arg59Met, XP_047305400.1:p.Arg59Lys

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