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Items: 1 to 20 of 425

1.

rs1486664923 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    12:69574283 (GRCh38)
    12:69968063 (GRCh37)
    Canonical SPDI:
    NC_000012.12:69574282:A:C
    Gene:
    FRS2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.69574283A>C, NC_000012.11:g.69968063A>C, NM_006654.5:c.855A>C, NM_006654.4:c.855A>C, NM_001042555.3:c.855A>C, NM_001042555.2:c.855A>C, XM_017018719.2:c.855A>C, XM_017018719.1:c.855A>C, NM_001278351.2:c.855A>C, NM_001278351.1:c.855A>C, XM_017018717.2:c.855A>C, XM_017018717.1:c.855A>C, XM_017018718.2:c.855A>C, XM_017018718.1:c.855A>C, NM_001278353.2:c.855A>C, NM_001278353.1:c.855A>C, NM_001278354.2:c.855A>C, NM_001278354.1:c.855A>C, NM_001278355.2:c.855A>C, NM_001278355.1:c.855A>C, NM_001278356.2:c.855A>C, NM_001278356.1:c.855A>C, NM_001278357.2:c.855A>C, NM_001278357.1:c.855A>C, XM_047428119.1:c.855A>C, XM_047428120.1:c.855A>C, XM_047428123.1:c.855A>C, XM_047428118.1:c.855A>C, XM_047428121.1:c.855A>C, XM_047428122.1:c.855A>C, NP_006645.3:p.Glu285Asp, NP_001036020.1:p.Glu285Asp, XP_016874208.1:p.Glu285Asp, NP_001265280.1:p.Glu285Asp, XP_016874206.1:p.Glu285Asp, XP_016874207.1:p.Glu285Asp, NP_001265282.1:p.Glu285Asp, NP_001265283.1:p.Glu285Asp, NP_001265284.1:p.Glu285Asp, NP_001265285.1:p.Glu285Asp, NP_001265286.1:p.Glu285Asp, XP_047284075.1:p.Glu285Asp, XP_047284076.1:p.Glu285Asp, XP_047284079.1:p.Glu285Asp, XP_047284074.1:p.Glu285Asp, XP_047284077.1:p.Glu285Asp, XP_047284078.1:p.Glu285Asp

    2.

    rs1486083363 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      12:69574635 (GRCh38)
      12:69968415 (GRCh37)
      Canonical SPDI:
      NC_000012.12:69574634:A:G
      Gene:
      FRS2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000012.12:g.69574635A>G, NC_000012.11:g.69968415A>G, NM_006654.5:c.1207A>G, NM_006654.4:c.1207A>G, NM_001042555.3:c.1207A>G, NM_001042555.2:c.1207A>G, XM_017018719.2:c.1207A>G, XM_017018719.1:c.1207A>G, NM_001278351.2:c.1207A>G, NM_001278351.1:c.1207A>G, XM_017018717.2:c.1207A>G, XM_017018717.1:c.1207A>G, XM_017018718.2:c.1207A>G, XM_017018718.1:c.1207A>G, NM_001278353.2:c.1207A>G, NM_001278353.1:c.1207A>G, NM_001278354.2:c.1207A>G, NM_001278354.1:c.1207A>G, NM_001278355.2:c.1207A>G, NM_001278355.1:c.1207A>G, NM_001278356.2:c.1207A>G, NM_001278356.1:c.1207A>G, NM_001278357.2:c.1207A>G, NM_001278357.1:c.1207A>G, XM_047428119.1:c.1207A>G, XM_047428120.1:c.1207A>G, XM_047428123.1:c.1207A>G, XM_047428118.1:c.1207A>G, XM_047428121.1:c.1207A>G, XM_047428122.1:c.1207A>G, NP_006645.3:p.Ser403Gly, NP_001036020.1:p.Ser403Gly, XP_016874208.1:p.Ser403Gly, NP_001265280.1:p.Ser403Gly, XP_016874206.1:p.Ser403Gly, XP_016874207.1:p.Ser403Gly, NP_001265282.1:p.Ser403Gly, NP_001265283.1:p.Ser403Gly, NP_001265284.1:p.Ser403Gly, NP_001265285.1:p.Ser403Gly, NP_001265286.1:p.Ser403Gly, XP_047284075.1:p.Ser403Gly, XP_047284076.1:p.Ser403Gly, XP_047284079.1:p.Ser403Gly, XP_047284074.1:p.Ser403Gly, XP_047284077.1:p.Ser403Gly, XP_047284078.1:p.Ser403Gly

      3.

      rs1485527843 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:69569083 (GRCh38)
        12:69962863 (GRCh37)
        Canonical SPDI:
        NC_000012.12:69569082:G:A
        Gene:
        FRS2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.69569083G>A, NC_000012.11:g.69962863G>A, NM_006654.5:c.53G>A, NM_006654.4:c.53G>A, NM_001042555.3:c.53G>A, NM_001042555.2:c.53G>A, XM_017018719.2:c.53G>A, XM_017018719.1:c.53G>A, NM_001278351.2:c.53G>A, NM_001278351.1:c.53G>A, XM_017018717.2:c.53G>A, XM_017018717.1:c.53G>A, XM_017018718.2:c.53G>A, XM_017018718.1:c.53G>A, NM_001278353.2:c.53G>A, NM_001278353.1:c.53G>A, NM_001278354.2:c.53G>A, NM_001278354.1:c.53G>A, NM_001278355.2:c.53G>A, NM_001278355.1:c.53G>A, NM_001278356.2:c.53G>A, NM_001278356.1:c.53G>A, NM_001278357.2:c.53G>A, NM_001278357.1:c.53G>A, XM_047428119.1:c.53G>A, XM_047428120.1:c.53G>A, XM_047428123.1:c.53G>A, XM_047428118.1:c.53G>A, XM_047428121.1:c.53G>A, XM_047428122.1:c.53G>A, NP_006645.3:p.Arg18Gln, NP_001036020.1:p.Arg18Gln, XP_016874208.1:p.Arg18Gln, NP_001265280.1:p.Arg18Gln, XP_016874206.1:p.Arg18Gln, XP_016874207.1:p.Arg18Gln, NP_001265282.1:p.Arg18Gln, NP_001265283.1:p.Arg18Gln, NP_001265284.1:p.Arg18Gln, NP_001265285.1:p.Arg18Gln, NP_001265286.1:p.Arg18Gln, XP_047284075.1:p.Arg18Gln, XP_047284076.1:p.Arg18Gln, XP_047284079.1:p.Arg18Gln, XP_047284074.1:p.Arg18Gln, XP_047284077.1:p.Arg18Gln, XP_047284078.1:p.Arg18Gln

        4.

        rs1485467127 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          12:69572205 (GRCh38)
          12:69965985 (GRCh37)
          Canonical SPDI:
          NC_000012.12:69572204:A:T
          Gene:
          FRS2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.69572205A>T, NC_000012.11:g.69965985A>T, NM_006654.5:c.500A>T, NM_006654.4:c.500A>T, NM_001042555.3:c.500A>T, NM_001042555.2:c.500A>T, XM_017018719.2:c.500A>T, XM_017018719.1:c.500A>T, NM_001278351.2:c.500A>T, NM_001278351.1:c.500A>T, XM_017018717.2:c.500A>T, XM_017018717.1:c.500A>T, XM_017018718.2:c.500A>T, XM_017018718.1:c.500A>T, NM_001278353.2:c.500A>T, NM_001278353.1:c.500A>T, NM_001278354.2:c.500A>T, NM_001278354.1:c.500A>T, NM_001278355.2:c.500A>T, NM_001278355.1:c.500A>T, NM_001278356.2:c.500A>T, NM_001278356.1:c.500A>T, NM_001278357.2:c.500A>T, NM_001278357.1:c.500A>T, XM_047428119.1:c.500A>T, XM_047428120.1:c.500A>T, XM_047428123.1:c.500A>T, XM_047428118.1:c.500A>T, XM_047428121.1:c.500A>T, XM_047428122.1:c.500A>T, NP_006645.3:p.His167Leu, NP_001036020.1:p.His167Leu, XP_016874208.1:p.His167Leu, NP_001265280.1:p.His167Leu, XP_016874206.1:p.His167Leu, XP_016874207.1:p.His167Leu, NP_001265282.1:p.His167Leu, NP_001265283.1:p.His167Leu, NP_001265284.1:p.His167Leu, NP_001265285.1:p.His167Leu, NP_001265286.1:p.His167Leu, XP_047284075.1:p.His167Leu, XP_047284076.1:p.His167Leu, XP_047284079.1:p.His167Leu, XP_047284074.1:p.His167Leu, XP_047284077.1:p.His167Leu, XP_047284078.1:p.His167Leu

          5.

          rs1480984247 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:69574267 (GRCh38)
            12:69968047 (GRCh37)
            Canonical SPDI:
            NC_000012.12:69574266:G:A
            Gene:
            FRS2 (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=0.000015/4 (TOPMED)
            HGVS:
            NC_000012.12:g.69574267G>A, NC_000012.11:g.69968047G>A, NM_006654.5:c.839G>A, NM_006654.4:c.839G>A, NM_001042555.3:c.839G>A, NM_001042555.2:c.839G>A, XM_017018719.2:c.839G>A, XM_017018719.1:c.839G>A, NM_001278351.2:c.839G>A, NM_001278351.1:c.839G>A, XM_017018717.2:c.839G>A, XM_017018717.1:c.839G>A, XM_017018718.2:c.839G>A, XM_017018718.1:c.839G>A, NM_001278353.2:c.839G>A, NM_001278353.1:c.839G>A, NM_001278354.2:c.839G>A, NM_001278354.1:c.839G>A, NM_001278355.2:c.839G>A, NM_001278355.1:c.839G>A, NM_001278356.2:c.839G>A, NM_001278356.1:c.839G>A, NM_001278357.2:c.839G>A, NM_001278357.1:c.839G>A, XM_047428119.1:c.839G>A, XM_047428120.1:c.839G>A, XM_047428123.1:c.839G>A, XM_047428118.1:c.839G>A, XM_047428121.1:c.839G>A, XM_047428122.1:c.839G>A, NP_006645.3:p.Gly280Glu, NP_001036020.1:p.Gly280Glu, XP_016874208.1:p.Gly280Glu, NP_001265280.1:p.Gly280Glu, XP_016874206.1:p.Gly280Glu, XP_016874207.1:p.Gly280Glu, NP_001265282.1:p.Gly280Glu, NP_001265283.1:p.Gly280Glu, NP_001265284.1:p.Gly280Glu, NP_001265285.1:p.Gly280Glu, NP_001265286.1:p.Gly280Glu, XP_047284075.1:p.Gly280Glu, XP_047284076.1:p.Gly280Glu, XP_047284079.1:p.Gly280Glu, XP_047284074.1:p.Gly280Glu, XP_047284077.1:p.Gly280Glu, XP_047284078.1:p.Gly280Glu

            6.

            rs1474479108 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:69572223 (GRCh38)
              12:69966003 (GRCh37)
              Canonical SPDI:
              NC_000012.12:69572222:C:T
              Gene:
              FRS2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000012.12:g.69572223C>T, NC_000012.11:g.69966003C>T, NM_006654.5:c.518C>T, NM_006654.4:c.518C>T, NM_001042555.3:c.518C>T, NM_001042555.2:c.518C>T, XM_017018719.2:c.518C>T, XM_017018719.1:c.518C>T, NM_001278351.2:c.518C>T, NM_001278351.1:c.518C>T, XM_017018717.2:c.518C>T, XM_017018717.1:c.518C>T, XM_017018718.2:c.518C>T, XM_017018718.1:c.518C>T, NM_001278353.2:c.518C>T, NM_001278353.1:c.518C>T, NM_001278354.2:c.518C>T, NM_001278354.1:c.518C>T, NM_001278355.2:c.518C>T, NM_001278355.1:c.518C>T, NM_001278356.2:c.518C>T, NM_001278356.1:c.518C>T, NM_001278357.2:c.518C>T, NM_001278357.1:c.518C>T, XM_047428119.1:c.518C>T, XM_047428120.1:c.518C>T, XM_047428123.1:c.518C>T, XM_047428118.1:c.518C>T, XM_047428121.1:c.518C>T, XM_047428122.1:c.518C>T, NP_006645.3:p.Ala173Val, NP_001036020.1:p.Ala173Val, XP_016874208.1:p.Ala173Val, NP_001265280.1:p.Ala173Val, XP_016874206.1:p.Ala173Val, XP_016874207.1:p.Ala173Val, NP_001265282.1:p.Ala173Val, NP_001265283.1:p.Ala173Val, NP_001265284.1:p.Ala173Val, NP_001265285.1:p.Ala173Val, NP_001265286.1:p.Ala173Val, XP_047284075.1:p.Ala173Val, XP_047284076.1:p.Ala173Val, XP_047284079.1:p.Ala173Val, XP_047284074.1:p.Ala173Val, XP_047284077.1:p.Ala173Val, XP_047284078.1:p.Ala173Val

              7.

              rs1472095265 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:69574899 (GRCh38)
                12:69968679 (GRCh37)
                Canonical SPDI:
                NC_000012.12:69574898:C:T
                Gene:
                FRS2 (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.69574899C>T, NC_000012.11:g.69968679C>T, NM_006654.5:c.1471C>T, NM_006654.4:c.1471C>T, NM_001042555.3:c.1471C>T, NM_001042555.2:c.1471C>T, XM_017018719.2:c.1471C>T, XM_017018719.1:c.1471C>T, NM_001278351.2:c.1471C>T, NM_001278351.1:c.1471C>T, XM_017018717.2:c.1471C>T, XM_017018717.1:c.1471C>T, XM_017018718.2:c.1471C>T, XM_017018718.1:c.1471C>T, NM_001278353.2:c.1471C>T, NM_001278353.1:c.1471C>T, NM_001278354.2:c.1471C>T, NM_001278354.1:c.1471C>T, NM_001278355.2:c.1471C>T, NM_001278355.1:c.1471C>T, NM_001278356.2:c.1471C>T, NM_001278356.1:c.1471C>T, NM_001278357.2:c.1471C>T, NM_001278357.1:c.1471C>T, XM_047428119.1:c.1471C>T, XM_047428120.1:c.1471C>T, XM_047428123.1:c.1471C>T, XM_047428118.1:c.1471C>T, XM_047428121.1:c.1471C>T, XM_047428122.1:c.1471C>T, NP_006645.3:p.Arg491Ter, NP_001036020.1:p.Arg491Ter, XP_016874208.1:p.Arg491Ter, NP_001265280.1:p.Arg491Ter, XP_016874206.1:p.Arg491Ter, XP_016874207.1:p.Arg491Ter, NP_001265282.1:p.Arg491Ter, NP_001265283.1:p.Arg491Ter, NP_001265284.1:p.Arg491Ter, NP_001265285.1:p.Arg491Ter, NP_001265286.1:p.Arg491Ter, XP_047284075.1:p.Arg491Ter, XP_047284076.1:p.Arg491Ter, XP_047284079.1:p.Arg491Ter, XP_047284074.1:p.Arg491Ter, XP_047284077.1:p.Arg491Ter, XP_047284078.1:p.Arg491Ter

                8.

                rs1471024313 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:69571276 (GRCh38)
                  12:69965056 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:69571275:G:A
                  Gene:
                  FRS2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000012.12:g.69571276G>A, NC_000012.11:g.69965056G>A, NM_006654.5:c.254G>A, NM_006654.4:c.254G>A, NM_001042555.3:c.254G>A, NM_001042555.2:c.254G>A, XM_017018719.2:c.254G>A, XM_017018719.1:c.254G>A, NM_001278351.2:c.254G>A, NM_001278351.1:c.254G>A, XM_017018717.2:c.254G>A, XM_017018717.1:c.254G>A, XM_017018718.2:c.254G>A, XM_017018718.1:c.254G>A, NM_001278353.2:c.254G>A, NM_001278353.1:c.254G>A, NM_001278354.2:c.254G>A, NM_001278354.1:c.254G>A, NM_001278355.2:c.254G>A, NM_001278355.1:c.254G>A, NM_001278356.2:c.254G>A, NM_001278356.1:c.254G>A, NM_001278357.2:c.254G>A, NM_001278357.1:c.254G>A, XM_047428119.1:c.254G>A, XM_047428120.1:c.254G>A, XM_047428123.1:c.254G>A, XM_047428118.1:c.254G>A, XM_047428121.1:c.254G>A, XM_047428122.1:c.254G>A, NP_006645.3:p.Gly85Glu, NP_001036020.1:p.Gly85Glu, XP_016874208.1:p.Gly85Glu, NP_001265280.1:p.Gly85Glu, XP_016874206.1:p.Gly85Glu, XP_016874207.1:p.Gly85Glu, NP_001265282.1:p.Gly85Glu, NP_001265283.1:p.Gly85Glu, NP_001265284.1:p.Gly85Glu, NP_001265285.1:p.Gly85Glu, NP_001265286.1:p.Gly85Glu, XP_047284075.1:p.Gly85Glu, XP_047284076.1:p.Gly85Glu, XP_047284079.1:p.Gly85Glu, XP_047284074.1:p.Gly85Glu, XP_047284077.1:p.Gly85Glu, XP_047284078.1:p.Gly85Glu

                  9.

                  rs1469803897 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    12:69574797 (GRCh38)
                    12:69968577 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:69574796:A:G,NC_000012.12:69574796:A:T
                    Gene:
                    FRS2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0./0 (KOREAN)
                    G=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000012.12:g.69574797A>G, NC_000012.12:g.69574797A>T, NC_000012.11:g.69968577A>G, NC_000012.11:g.69968577A>T, NM_006654.5:c.1369A>G, NM_006654.5:c.1369A>T, NM_006654.4:c.1369A>G, NM_006654.4:c.1369A>T, NM_001042555.3:c.1369A>G, NM_001042555.3:c.1369A>T, NM_001042555.2:c.1369A>G, NM_001042555.2:c.1369A>T, XM_017018719.2:c.1369A>G, XM_017018719.2:c.1369A>T, XM_017018719.1:c.1369A>G, XM_017018719.1:c.1369A>T, NM_001278351.2:c.1369A>G, NM_001278351.2:c.1369A>T, NM_001278351.1:c.1369A>G, NM_001278351.1:c.1369A>T, XM_017018717.2:c.1369A>G, XM_017018717.2:c.1369A>T, XM_017018717.1:c.1369A>G, XM_017018717.1:c.1369A>T, XM_017018718.2:c.1369A>G, XM_017018718.2:c.1369A>T, XM_017018718.1:c.1369A>G, XM_017018718.1:c.1369A>T, NM_001278353.2:c.1369A>G, NM_001278353.2:c.1369A>T, NM_001278353.1:c.1369A>G, NM_001278353.1:c.1369A>T, NM_001278354.2:c.1369A>G, NM_001278354.2:c.1369A>T, NM_001278354.1:c.1369A>G, NM_001278354.1:c.1369A>T, NM_001278355.2:c.1369A>G, NM_001278355.2:c.1369A>T, NM_001278355.1:c.1369A>G, NM_001278355.1:c.1369A>T, NM_001278356.2:c.1369A>G, NM_001278356.2:c.1369A>T, NM_001278356.1:c.1369A>G, NM_001278356.1:c.1369A>T, NM_001278357.2:c.1369A>G, NM_001278357.2:c.1369A>T, NM_001278357.1:c.1369A>G, NM_001278357.1:c.1369A>T, XM_047428119.1:c.1369A>G, XM_047428119.1:c.1369A>T, XM_047428120.1:c.1369A>G, XM_047428120.1:c.1369A>T, XM_047428123.1:c.1369A>G, XM_047428123.1:c.1369A>T, XM_047428118.1:c.1369A>G, XM_047428118.1:c.1369A>T, XM_047428121.1:c.1369A>G, XM_047428121.1:c.1369A>T, XM_047428122.1:c.1369A>G, XM_047428122.1:c.1369A>T, NP_006645.3:p.Thr457Ala, NP_006645.3:p.Thr457Ser, NP_001036020.1:p.Thr457Ala, NP_001036020.1:p.Thr457Ser, XP_016874208.1:p.Thr457Ala, XP_016874208.1:p.Thr457Ser, NP_001265280.1:p.Thr457Ala, NP_001265280.1:p.Thr457Ser, XP_016874206.1:p.Thr457Ala, XP_016874206.1:p.Thr457Ser, XP_016874207.1:p.Thr457Ala, XP_016874207.1:p.Thr457Ser, NP_001265282.1:p.Thr457Ala, NP_001265282.1:p.Thr457Ser, NP_001265283.1:p.Thr457Ala, NP_001265283.1:p.Thr457Ser, NP_001265284.1:p.Thr457Ala, NP_001265284.1:p.Thr457Ser, NP_001265285.1:p.Thr457Ala, NP_001265285.1:p.Thr457Ser, NP_001265286.1:p.Thr457Ala, NP_001265286.1:p.Thr457Ser, XP_047284075.1:p.Thr457Ala, XP_047284075.1:p.Thr457Ser, XP_047284076.1:p.Thr457Ala, XP_047284076.1:p.Thr457Ser, XP_047284079.1:p.Thr457Ala, XP_047284079.1:p.Thr457Ser, XP_047284074.1:p.Thr457Ala, XP_047284074.1:p.Thr457Ser, XP_047284077.1:p.Thr457Ala, XP_047284077.1:p.Thr457Ser, XP_047284078.1:p.Thr457Ala, XP_047284078.1:p.Thr457Ser

                    10.

                    rs1469676385 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      12:69574791 (GRCh38)
                      12:69968571 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:69574790:A:G
                      Gene:
                      FRS2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000012.12:g.69574791A>G, NC_000012.11:g.69968571A>G, NM_006654.5:c.1363A>G, NM_006654.4:c.1363A>G, NM_001042555.3:c.1363A>G, NM_001042555.2:c.1363A>G, XM_017018719.2:c.1363A>G, XM_017018719.1:c.1363A>G, NM_001278351.2:c.1363A>G, NM_001278351.1:c.1363A>G, XM_017018717.2:c.1363A>G, XM_017018717.1:c.1363A>G, XM_017018718.2:c.1363A>G, XM_017018718.1:c.1363A>G, NM_001278353.2:c.1363A>G, NM_001278353.1:c.1363A>G, NM_001278354.2:c.1363A>G, NM_001278354.1:c.1363A>G, NM_001278355.2:c.1363A>G, NM_001278355.1:c.1363A>G, NM_001278356.2:c.1363A>G, NM_001278356.1:c.1363A>G, NM_001278357.2:c.1363A>G, NM_001278357.1:c.1363A>G, XM_047428119.1:c.1363A>G, XM_047428120.1:c.1363A>G, XM_047428123.1:c.1363A>G, XM_047428118.1:c.1363A>G, XM_047428121.1:c.1363A>G, XM_047428122.1:c.1363A>G, NP_006645.3:p.Thr455Ala, NP_001036020.1:p.Thr455Ala, XP_016874208.1:p.Thr455Ala, NP_001265280.1:p.Thr455Ala, XP_016874206.1:p.Thr455Ala, XP_016874207.1:p.Thr455Ala, NP_001265282.1:p.Thr455Ala, NP_001265283.1:p.Thr455Ala, NP_001265284.1:p.Thr455Ala, NP_001265285.1:p.Thr455Ala, NP_001265286.1:p.Thr455Ala, XP_047284075.1:p.Thr455Ala, XP_047284076.1:p.Thr455Ala, XP_047284079.1:p.Thr455Ala, XP_047284074.1:p.Thr455Ala, XP_047284077.1:p.Thr455Ala, XP_047284078.1:p.Thr455Ala

                      11.

                      rs1467615817 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        12:69571333 (GRCh38)
                        12:69965113 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:69571332:T:G
                        Gene:
                        FRS2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000012.12:g.69571333T>G, NC_000012.11:g.69965113T>G, NM_006654.5:c.311T>G, NM_006654.4:c.311T>G, NM_001042555.3:c.311T>G, NM_001042555.2:c.311T>G, XM_017018719.2:c.311T>G, XM_017018719.1:c.311T>G, NM_001278351.2:c.311T>G, NM_001278351.1:c.311T>G, XM_017018717.2:c.311T>G, XM_017018717.1:c.311T>G, XM_017018718.2:c.311T>G, XM_017018718.1:c.311T>G, NM_001278353.2:c.311T>G, NM_001278353.1:c.311T>G, NM_001278354.2:c.311T>G, NM_001278354.1:c.311T>G, NM_001278355.2:c.311T>G, NM_001278355.1:c.311T>G, NM_001278356.2:c.311T>G, NM_001278356.1:c.311T>G, NM_001278357.2:c.311T>G, NM_001278357.1:c.311T>G, XM_047428119.1:c.311T>G, XM_047428120.1:c.311T>G, XM_047428123.1:c.311T>G, XM_047428118.1:c.311T>G, XM_047428121.1:c.311T>G, XM_047428122.1:c.311T>G, NP_006645.3:p.Ile104Ser, NP_001036020.1:p.Ile104Ser, XP_016874208.1:p.Ile104Ser, NP_001265280.1:p.Ile104Ser, XP_016874206.1:p.Ile104Ser, XP_016874207.1:p.Ile104Ser, NP_001265282.1:p.Ile104Ser, NP_001265283.1:p.Ile104Ser, NP_001265284.1:p.Ile104Ser, NP_001265285.1:p.Ile104Ser, NP_001265286.1:p.Ile104Ser, XP_047284075.1:p.Ile104Ser, XP_047284076.1:p.Ile104Ser, XP_047284079.1:p.Ile104Ser, XP_047284074.1:p.Ile104Ser, XP_047284077.1:p.Ile104Ser, XP_047284078.1:p.Ile104Ser

                        12.

                        rs1466451021 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:69574940 (GRCh38)
                          12:69968720 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:69574939:T:C
                          Gene:
                          FRS2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1463425052 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            12:69574913 (GRCh38)
                            12:69968693 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:69574912:A:C
                            Gene:
                            FRS2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1461975272 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:69574195 (GRCh38)
                              12:69967975 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:69574194:C:T
                              Gene:
                              FRS2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.69574195C>T, NC_000012.11:g.69967975C>T, NM_006654.5:c.767C>T, NM_006654.4:c.767C>T, NM_001042555.3:c.767C>T, NM_001042555.2:c.767C>T, XM_017018719.2:c.767C>T, XM_017018719.1:c.767C>T, NM_001278351.2:c.767C>T, NM_001278351.1:c.767C>T, XM_017018717.2:c.767C>T, XM_017018717.1:c.767C>T, XM_017018718.2:c.767C>T, XM_017018718.1:c.767C>T, NM_001278353.2:c.767C>T, NM_001278353.1:c.767C>T, NM_001278354.2:c.767C>T, NM_001278354.1:c.767C>T, NM_001278355.2:c.767C>T, NM_001278355.1:c.767C>T, NM_001278356.2:c.767C>T, NM_001278356.1:c.767C>T, NM_001278357.2:c.767C>T, NM_001278357.1:c.767C>T, XM_047428119.1:c.767C>T, XM_047428120.1:c.767C>T, XM_047428123.1:c.767C>T, XM_047428118.1:c.767C>T, XM_047428121.1:c.767C>T, XM_047428122.1:c.767C>T, NP_006645.3:p.Thr256Ile, NP_001036020.1:p.Thr256Ile, XP_016874208.1:p.Thr256Ile, NP_001265280.1:p.Thr256Ile, XP_016874206.1:p.Thr256Ile, XP_016874207.1:p.Thr256Ile, NP_001265282.1:p.Thr256Ile, NP_001265283.1:p.Thr256Ile, NP_001265284.1:p.Thr256Ile, NP_001265285.1:p.Thr256Ile, NP_001265286.1:p.Thr256Ile, XP_047284075.1:p.Thr256Ile, XP_047284076.1:p.Thr256Ile, XP_047284079.1:p.Thr256Ile, XP_047284074.1:p.Thr256Ile, XP_047284077.1:p.Thr256Ile, XP_047284078.1:p.Thr256Ile

                              15.

                              rs1457394241 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:69574578 (GRCh38)
                                12:69968358 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:69574577:A:G
                                Gene:
                                FRS2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.69574578A>G, NC_000012.11:g.69968358A>G, NM_006654.5:c.1150A>G, NM_006654.4:c.1150A>G, NM_001042555.3:c.1150A>G, NM_001042555.2:c.1150A>G, XM_017018719.2:c.1150A>G, XM_017018719.1:c.1150A>G, NM_001278351.2:c.1150A>G, NM_001278351.1:c.1150A>G, XM_017018717.2:c.1150A>G, XM_017018717.1:c.1150A>G, XM_017018718.2:c.1150A>G, XM_017018718.1:c.1150A>G, NM_001278353.2:c.1150A>G, NM_001278353.1:c.1150A>G, NM_001278354.2:c.1150A>G, NM_001278354.1:c.1150A>G, NM_001278355.2:c.1150A>G, NM_001278355.1:c.1150A>G, NM_001278356.2:c.1150A>G, NM_001278356.1:c.1150A>G, NM_001278357.2:c.1150A>G, NM_001278357.1:c.1150A>G, XM_047428119.1:c.1150A>G, XM_047428120.1:c.1150A>G, XM_047428123.1:c.1150A>G, XM_047428118.1:c.1150A>G, XM_047428121.1:c.1150A>G, XM_047428122.1:c.1150A>G, NP_006645.3:p.Asn384Asp, NP_001036020.1:p.Asn384Asp, XP_016874208.1:p.Asn384Asp, NP_001265280.1:p.Asn384Asp, XP_016874206.1:p.Asn384Asp, XP_016874207.1:p.Asn384Asp, NP_001265282.1:p.Asn384Asp, NP_001265283.1:p.Asn384Asp, NP_001265284.1:p.Asn384Asp, NP_001265285.1:p.Asn384Asp, NP_001265286.1:p.Asn384Asp, XP_047284075.1:p.Asn384Asp, XP_047284076.1:p.Asn384Asp, XP_047284079.1:p.Asn384Asp, XP_047284074.1:p.Asn384Asp, XP_047284077.1:p.Asn384Asp, XP_047284078.1:p.Asn384Asp

                                16.

                                rs1455589154 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:69574333 (GRCh38)
                                  12:69968113 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:69574332:A:G
                                  Gene:
                                  FRS2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.69574333A>G, NC_000012.11:g.69968113A>G, NM_006654.5:c.905A>G, NM_006654.4:c.905A>G, NM_001042555.3:c.905A>G, NM_001042555.2:c.905A>G, XM_017018719.2:c.905A>G, XM_017018719.1:c.905A>G, NM_001278351.2:c.905A>G, NM_001278351.1:c.905A>G, XM_017018717.2:c.905A>G, XM_017018717.1:c.905A>G, XM_017018718.2:c.905A>G, XM_017018718.1:c.905A>G, NM_001278353.2:c.905A>G, NM_001278353.1:c.905A>G, NM_001278354.2:c.905A>G, NM_001278354.1:c.905A>G, NM_001278355.2:c.905A>G, NM_001278355.1:c.905A>G, NM_001278356.2:c.905A>G, NM_001278356.1:c.905A>G, NM_001278357.2:c.905A>G, NM_001278357.1:c.905A>G, XM_047428119.1:c.905A>G, XM_047428120.1:c.905A>G, XM_047428123.1:c.905A>G, XM_047428118.1:c.905A>G, XM_047428121.1:c.905A>G, XM_047428122.1:c.905A>G, NP_006645.3:p.Asn302Ser, NP_001036020.1:p.Asn302Ser, XP_016874208.1:p.Asn302Ser, NP_001265280.1:p.Asn302Ser, XP_016874206.1:p.Asn302Ser, XP_016874207.1:p.Asn302Ser, NP_001265282.1:p.Asn302Ser, NP_001265283.1:p.Asn302Ser, NP_001265284.1:p.Asn302Ser, NP_001265285.1:p.Asn302Ser, NP_001265286.1:p.Asn302Ser, XP_047284075.1:p.Asn302Ser, XP_047284076.1:p.Asn302Ser, XP_047284079.1:p.Asn302Ser, XP_047284074.1:p.Asn302Ser, XP_047284077.1:p.Asn302Ser, XP_047284078.1:p.Asn302Ser

                                  17.

                                  rs1455442882 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:69574709 (GRCh38)
                                    12:69968489 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:69574708:A:G
                                    Gene:
                                    FRS2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1453174527 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      12:69574422 (GRCh38)
                                      12:69968202 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:69574421:G:T
                                      Gene:
                                      FRS2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.69574422G>T, NC_000012.11:g.69968202G>T, NM_006654.5:c.994G>T, NM_006654.4:c.994G>T, NM_001042555.3:c.994G>T, NM_001042555.2:c.994G>T, XM_017018719.2:c.994G>T, XM_017018719.1:c.994G>T, NM_001278351.2:c.994G>T, NM_001278351.1:c.994G>T, XM_017018717.2:c.994G>T, XM_017018717.1:c.994G>T, XM_017018718.2:c.994G>T, XM_017018718.1:c.994G>T, NM_001278353.2:c.994G>T, NM_001278353.1:c.994G>T, NM_001278354.2:c.994G>T, NM_001278354.1:c.994G>T, NM_001278355.2:c.994G>T, NM_001278355.1:c.994G>T, NM_001278356.2:c.994G>T, NM_001278356.1:c.994G>T, NM_001278357.2:c.994G>T, NM_001278357.1:c.994G>T, XM_047428119.1:c.994G>T, XM_047428120.1:c.994G>T, XM_047428123.1:c.994G>T, XM_047428118.1:c.994G>T, XM_047428121.1:c.994G>T, XM_047428122.1:c.994G>T, NP_006645.3:p.Asp332Tyr, NP_001036020.1:p.Asp332Tyr, XP_016874208.1:p.Asp332Tyr, NP_001265280.1:p.Asp332Tyr, XP_016874206.1:p.Asp332Tyr, XP_016874207.1:p.Asp332Tyr, NP_001265282.1:p.Asp332Tyr, NP_001265283.1:p.Asp332Tyr, NP_001265284.1:p.Asp332Tyr, NP_001265285.1:p.Asp332Tyr, NP_001265286.1:p.Asp332Tyr, XP_047284075.1:p.Asp332Tyr, XP_047284076.1:p.Asp332Tyr, XP_047284079.1:p.Asp332Tyr, XP_047284074.1:p.Asp332Tyr, XP_047284077.1:p.Asp332Tyr, XP_047284078.1:p.Asp332Tyr

                                      19.

                                      rs1453115461 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        12:69571388 (GRCh38)
                                        12:69965168 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:69571387:T:A
                                        Gene:
                                        FRS2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.69571388T>A, NC_000012.11:g.69965168T>A, NM_006654.5:c.366T>A, NM_006654.4:c.366T>A, NM_001042555.3:c.366T>A, NM_001042555.2:c.366T>A, XM_017018719.2:c.366T>A, XM_017018719.1:c.366T>A, NM_001278351.2:c.366T>A, NM_001278351.1:c.366T>A, XM_017018717.2:c.366T>A, XM_017018717.1:c.366T>A, XM_017018718.2:c.366T>A, XM_017018718.1:c.366T>A, NM_001278353.2:c.366T>A, NM_001278353.1:c.366T>A, NM_001278354.2:c.366T>A, NM_001278354.1:c.366T>A, NM_001278355.2:c.366T>A, NM_001278355.1:c.366T>A, NM_001278356.2:c.366T>A, NM_001278356.1:c.366T>A, NM_001278357.2:c.366T>A, NM_001278357.1:c.366T>A, XM_047428119.1:c.366T>A, XM_047428120.1:c.366T>A, XM_047428123.1:c.366T>A, XM_047428118.1:c.366T>A, XM_047428121.1:c.366T>A, XM_047428122.1:c.366T>A, NP_006645.3:p.Asn122Lys, NP_001036020.1:p.Asn122Lys, XP_016874208.1:p.Asn122Lys, NP_001265280.1:p.Asn122Lys, XP_016874206.1:p.Asn122Lys, XP_016874207.1:p.Asn122Lys, NP_001265282.1:p.Asn122Lys, NP_001265283.1:p.Asn122Lys, NP_001265284.1:p.Asn122Lys, NP_001265285.1:p.Asn122Lys, NP_001265286.1:p.Asn122Lys, XP_047284075.1:p.Asn122Lys, XP_047284076.1:p.Asn122Lys, XP_047284079.1:p.Asn122Lys, XP_047284074.1:p.Asn122Lys, XP_047284077.1:p.Asn122Lys, XP_047284078.1:p.Asn122Lys

                                        20.

                                        rs1452583357 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:69574894 (GRCh38)
                                          12:69968674 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:69574893:T:C
                                          Gene:
                                          FRS2 (Varview)
                                          Functional Consequence:
                                          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_000012.12:g.69574894T>C, NC_000012.11:g.69968674T>C, NM_006654.5:c.1466T>C, NM_006654.4:c.1466T>C, NM_001042555.3:c.1466T>C, NM_001042555.2:c.1466T>C, XM_017018719.2:c.1466T>C, XM_017018719.1:c.1466T>C, NM_001278351.2:c.1466T>C, NM_001278351.1:c.1466T>C, XM_017018717.2:c.1466T>C, XM_017018717.1:c.1466T>C, XM_017018718.2:c.1466T>C, XM_017018718.1:c.1466T>C, NM_001278353.2:c.1466T>C, NM_001278353.1:c.1466T>C, NM_001278354.2:c.1466T>C, NM_001278354.1:c.1466T>C, NM_001278355.2:c.1466T>C, NM_001278355.1:c.1466T>C, NM_001278356.2:c.1466T>C, NM_001278356.1:c.1466T>C, NM_001278357.2:c.1466T>C, NM_001278357.1:c.1466T>C, XM_047428119.1:c.1466T>C, XM_047428120.1:c.1466T>C, XM_047428123.1:c.1466T>C, XM_047428118.1:c.1466T>C, XM_047428121.1:c.1466T>C, XM_047428122.1:c.1466T>C, NP_006645.3:p.Leu489Pro, NP_001036020.1:p.Leu489Pro, XP_016874208.1:p.Leu489Pro, NP_001265280.1:p.Leu489Pro, XP_016874206.1:p.Leu489Pro, XP_016874207.1:p.Leu489Pro, NP_001265282.1:p.Leu489Pro, NP_001265283.1:p.Leu489Pro, NP_001265284.1:p.Leu489Pro, NP_001265285.1:p.Leu489Pro, NP_001265286.1:p.Leu489Pro, XP_047284075.1:p.Leu489Pro, XP_047284076.1:p.Leu489Pro, XP_047284079.1:p.Leu489Pro, XP_047284074.1:p.Leu489Pro, XP_047284077.1:p.Leu489Pro, XP_047284078.1:p.Leu489Pro

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