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Items: 1 to 20 of 1837

1.

rs1490171700 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:113629593 (GRCh38)
    10:115389352 (GRCh37)
    Canonical SPDI:
    NC_000010.11:113629592:T:C
    Gene:
    NRAP (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000010.11:g.113629593T>C, NC_000010.10:g.115389352T>C, NM_006175.5:c.1930A>G, NM_006175.4:c.1930A>G, NM_198060.4:c.2035A>G, NM_198060.3:c.2035A>G, XM_006717870.3:c.2035A>G, XM_006717870.2:c.2035A>G, XM_006717870.1:c.2035A>G, XM_005269864.3:c.1930A>G, XM_005269864.2:c.1930A>G, XM_005269864.1:c.1930A>G, XM_011539832.3:c.2035A>G, XM_011539832.2:c.2035A>G, XM_011539832.1:c.2035A>G, XM_005269865.3:c.2035A>G, XM_005269865.2:c.2035A>G, XM_005269865.1:c.2035A>G, XM_005269867.3:c.2035A>G, XM_005269867.2:c.2035A>G, XM_005269867.1:c.2035A>G, NM_001322945.2:c.2035A>G, NM_001322945.1:c.2035A>G, NM_001261463.2:c.2035A>G, NM_001261463.1:c.2035A>G, XM_024448029.2:c.2035A>G, XM_024448029.1:c.2035A>G, XM_047425253.1:c.2035A>G, NP_006166.3:p.Ser644Gly, NP_932326.2:p.Ser679Gly, XP_006717933.1:p.Ser679Gly, XP_005269921.1:p.Ser644Gly, XP_011538134.1:p.Ser679Gly, XP_005269922.1:p.Ser679Gly, XP_005269924.1:p.Ser679Gly, NP_001309874.1:p.Ser679Gly, NP_001248392.1:p.Ser679Gly, XP_024303797.1:p.Ser679Gly, XP_047281209.1:p.Ser679Gly

    2.

    rs1490091908 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:113595627 (GRCh38)
      10:115355386 (GRCh37)
      Canonical SPDI:
      NC_000010.11:113595626:C:T
      Gene:
      NRAP (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000010.11:g.113595627C>T, NC_000010.10:g.115355386C>T, NM_006175.5:c.4427G>A, NM_006175.4:c.4427G>A, NM_198060.4:c.4532G>A, NM_198060.3:c.4532G>A, XM_006717870.3:c.4427G>A, XM_006717870.2:c.4427G>A, XM_006717870.1:c.4427G>A, XM_005269864.3:c.4427G>A, XM_005269864.2:c.4427G>A, XM_005269864.1:c.4427G>A, XM_011539832.3:c.4532G>A, XM_011539832.2:c.4532G>A, XM_011539832.1:c.4532G>A, XM_005269865.3:c.4424G>A, XM_005269865.2:c.4424G>A, XM_005269865.1:c.4424G>A, XM_005269867.3:c.4220G>A, XM_005269867.2:c.4220G>A, XM_005269867.1:c.4220G>A, NM_001322945.2:c.4424G>A, NM_001322945.1:c.4424G>A, NM_001261463.2:c.4532G>A, NM_001261463.1:c.4532G>A, XM_024448029.2:c.4220G>A, XM_024448029.1:c.4220G>A, XM_047425253.1:c.4427G>A, NP_006166.3:p.Ser1476Asn, NP_932326.2:p.Ser1511Asn, XP_006717933.1:p.Ser1476Asn, XP_005269921.1:p.Ser1476Asn, XP_011538134.1:p.Ser1511Asn, XP_005269922.1:p.Ser1475Asn, XP_005269924.1:p.Ser1407Asn, NP_001309874.1:p.Ser1475Asn, NP_001248392.1:p.Ser1511Asn, XP_024303797.1:p.Ser1407Asn, XP_047281209.1:p.Ser1476Asn

      3.

      rs1489763655 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        10:113590661 (GRCh38)
        10:115350420 (GRCh37)
        Canonical SPDI:
        NC_000010.11:113590660:T:C,NC_000010.11:113590660:T:G
        Gene:
        NRAP (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        NC_000010.11:g.113590661T>C, NC_000010.11:g.113590661T>G, NC_000010.10:g.115350420T>C, NC_000010.10:g.115350420T>G, NG_008956.1:g.42643T>C, NG_008956.1:g.42643T>G, NM_006175.5:c.4768A>G, NM_006175.5:c.4768A>C, NM_006175.4:c.4768A>G, NM_006175.4:c.4768A>C, NM_198060.4:c.4873A>G, NM_198060.4:c.4873A>C, NM_198060.3:c.4873A>G, NM_198060.3:c.4873A>C, XM_006717870.3:c.4768A>G, XM_006717870.3:c.4768A>C, XM_006717870.2:c.4768A>G, XM_006717870.2:c.4768A>C, XM_006717870.1:c.4768A>G, XM_006717870.1:c.4768A>C, XM_005269864.3:c.4768A>G, XM_005269864.3:c.4768A>C, XM_005269864.2:c.4768A>G, XM_005269864.2:c.4768A>C, XM_005269864.1:c.4768A>G, XM_005269864.1:c.4768A>C, XM_011539832.3:c.4765A>G, XM_011539832.3:c.4765A>C, XM_011539832.2:c.4765A>G, XM_011539832.2:c.4765A>C, XM_011539832.1:c.4765A>G, XM_011539832.1:c.4765A>C, XM_005269865.3:c.4765A>G, XM_005269865.3:c.4765A>C, XM_005269865.2:c.4765A>G, XM_005269865.2:c.4765A>C, XM_005269865.1:c.4765A>G, XM_005269865.1:c.4765A>C, XM_005269867.3:c.4561A>G, XM_005269867.3:c.4561A>C, XM_005269867.2:c.4561A>G, XM_005269867.2:c.4561A>C, XM_005269867.1:c.4561A>G, XM_005269867.1:c.4561A>C, NM_001322945.2:c.4765A>G, NM_001322945.2:c.4765A>C, NM_001322945.1:c.4765A>G, NM_001322945.1:c.4765A>C, NM_001261463.2:c.4873A>G, NM_001261463.2:c.4873A>C, NM_001261463.1:c.4873A>G, NM_001261463.1:c.4873A>C, XM_024448029.2:c.4561A>G, XM_024448029.2:c.4561A>C, XM_024448029.1:c.4561A>G, XM_024448029.1:c.4561A>C, XM_047425253.1:c.4768A>G, XM_047425253.1:c.4768A>C, NP_006166.3:p.Arg1590Gly, NP_932326.2:p.Arg1625Gly, XP_006717933.1:p.Arg1590Gly, XP_005269921.1:p.Arg1590Gly, XP_011538134.1:p.Arg1589Gly, XP_005269922.1:p.Arg1589Gly, XP_005269924.1:p.Arg1521Gly, NP_001309874.1:p.Arg1589Gly, NP_001248392.1:p.Arg1625Gly, XP_024303797.1:p.Arg1521Gly, XP_047281209.1:p.Arg1590Gly

        4.

        rs1489744867 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          10:113610536 (GRCh38)
          10:115370295 (GRCh37)
          Canonical SPDI:
          NC_000010.11:113610535:T:A
          Gene:
          NRAP (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.113610536T>A, NC_000010.10:g.115370295T>A, NM_006175.5:c.3421A>T, NM_006175.4:c.3421A>T, NM_198060.4:c.3526A>T, NM_198060.3:c.3526A>T, XM_006717870.3:c.3421A>T, XM_006717870.2:c.3421A>T, XM_006717870.1:c.3421A>T, XM_005269864.3:c.3421A>T, XM_005269864.2:c.3421A>T, XM_005269864.1:c.3421A>T, XM_011539832.3:c.3526A>T, XM_011539832.2:c.3526A>T, XM_011539832.1:c.3526A>T, XM_005269865.3:c.3418A>T, XM_005269865.2:c.3418A>T, XM_005269865.1:c.3418A>T, XM_005269867.3:c.3526A>T, XM_005269867.2:c.3526A>T, XM_005269867.1:c.3526A>T, NM_001322945.2:c.3418A>T, NM_001322945.1:c.3418A>T, NM_001261463.2:c.3526A>T, NM_001261463.1:c.3526A>T, XM_024448029.2:c.3526A>T, XM_024448029.1:c.3526A>T, XM_047425253.1:c.3421A>T, NP_006166.3:p.Met1141Leu, NP_932326.2:p.Met1176Leu, XP_006717933.1:p.Met1141Leu, XP_005269921.1:p.Met1141Leu, XP_011538134.1:p.Met1176Leu, XP_005269922.1:p.Met1140Leu, XP_005269924.1:p.Met1176Leu, NP_001309874.1:p.Met1140Leu, NP_001248392.1:p.Met1176Leu, XP_024303797.1:p.Met1176Leu, XP_047281209.1:p.Met1141Leu

          5.

          rs1488771512 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            10:113643020 (GRCh38)
            10:115402779 (GRCh37)
            Canonical SPDI:
            NC_000010.11:113643019:G:C,NC_000010.11:113643019:G:T
            Gene:
            NRAP (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000010.11:g.113643020G>C, NC_000010.11:g.113643020G>T, NC_000010.10:g.115402779G>C, NC_000010.10:g.115402779G>T, NM_198060.4:c.1129C>G, NM_198060.4:c.1129C>A, NM_198060.3:c.1129C>G, NM_198060.3:c.1129C>A, XM_006717870.3:c.1129C>G, XM_006717870.3:c.1129C>A, XM_006717870.2:c.1129C>G, XM_006717870.2:c.1129C>A, XM_006717870.1:c.1129C>G, XM_006717870.1:c.1129C>A, XM_011539832.3:c.1129C>G, XM_011539832.3:c.1129C>A, XM_011539832.2:c.1129C>G, XM_011539832.2:c.1129C>A, XM_011539832.1:c.1129C>G, XM_011539832.1:c.1129C>A, XM_005269865.3:c.1129C>G, XM_005269865.3:c.1129C>A, XM_005269865.2:c.1129C>G, XM_005269865.2:c.1129C>A, XM_005269865.1:c.1129C>G, XM_005269865.1:c.1129C>A, XM_005269867.3:c.1129C>G, XM_005269867.3:c.1129C>A, XM_005269867.2:c.1129C>G, XM_005269867.2:c.1129C>A, XM_005269867.1:c.1129C>G, XM_005269867.1:c.1129C>A, NM_001322945.2:c.1129C>G, NM_001322945.2:c.1129C>A, NM_001322945.1:c.1129C>G, NM_001322945.1:c.1129C>A, NM_001261463.2:c.1129C>G, NM_001261463.2:c.1129C>A, NM_001261463.1:c.1129C>G, NM_001261463.1:c.1129C>A, XM_024448029.2:c.1129C>G, XM_024448029.2:c.1129C>A, XM_024448029.1:c.1129C>G, XM_024448029.1:c.1129C>A, XM_047425253.1:c.1129C>G, XM_047425253.1:c.1129C>A, NP_932326.2:p.Leu377Val, NP_932326.2:p.Leu377Met, XP_006717933.1:p.Leu377Val, XP_006717933.1:p.Leu377Met, XP_011538134.1:p.Leu377Val, XP_011538134.1:p.Leu377Met, XP_005269922.1:p.Leu377Val, XP_005269922.1:p.Leu377Met, XP_005269924.1:p.Leu377Val, XP_005269924.1:p.Leu377Met, NP_001309874.1:p.Leu377Val, NP_001309874.1:p.Leu377Met, NP_001248392.1:p.Leu377Val, NP_001248392.1:p.Leu377Met, XP_024303797.1:p.Leu377Val, XP_024303797.1:p.Leu377Met, XP_047281209.1:p.Leu377Val, XP_047281209.1:p.Leu377Met

            6.

            rs1487483270 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              10:113606242 (GRCh38)
              10:115366001 (GRCh37)
              Canonical SPDI:
              NC_000010.11:113606241:T:A,NC_000010.11:113606241:T:C
              Gene:
              NRAP (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000010.11:g.113606242T>A, NC_000010.11:g.113606242T>C, NC_000010.10:g.115366001T>A, NC_000010.10:g.115366001T>C, NM_006175.5:c.3638A>T, NM_006175.5:c.3638A>G, NM_006175.4:c.3638A>T, NM_006175.4:c.3638A>G, NM_198060.4:c.3743A>T, NM_198060.4:c.3743A>G, NM_198060.3:c.3743A>T, NM_198060.3:c.3743A>G, XM_006717870.3:c.3638A>T, XM_006717870.3:c.3638A>G, XM_006717870.2:c.3638A>T, XM_006717870.2:c.3638A>G, XM_006717870.1:c.3638A>T, XM_006717870.1:c.3638A>G, XM_005269864.3:c.3638A>T, XM_005269864.3:c.3638A>G, XM_005269864.2:c.3638A>T, XM_005269864.2:c.3638A>G, XM_005269864.1:c.3638A>T, XM_005269864.1:c.3638A>G, XM_011539832.3:c.3743A>T, XM_011539832.3:c.3743A>G, XM_011539832.2:c.3743A>T, XM_011539832.2:c.3743A>G, XM_011539832.1:c.3743A>T, XM_011539832.1:c.3743A>G, XM_005269865.3:c.3635A>T, XM_005269865.3:c.3635A>G, XM_005269865.2:c.3635A>T, XM_005269865.2:c.3635A>G, XM_005269865.1:c.3635A>T, XM_005269865.1:c.3635A>G, XM_005269867.3:c.3743A>T, XM_005269867.3:c.3743A>G, XM_005269867.2:c.3743A>T, XM_005269867.2:c.3743A>G, XM_005269867.1:c.3743A>T, XM_005269867.1:c.3743A>G, NM_001322945.2:c.3635A>T, NM_001322945.2:c.3635A>G, NM_001322945.1:c.3635A>T, NM_001322945.1:c.3635A>G, NM_001261463.2:c.3743A>T, NM_001261463.2:c.3743A>G, NM_001261463.1:c.3743A>T, NM_001261463.1:c.3743A>G, XM_024448029.2:c.3743A>T, XM_024448029.2:c.3743A>G, XM_024448029.1:c.3743A>T, XM_024448029.1:c.3743A>G, XM_047425253.1:c.3638A>T, XM_047425253.1:c.3638A>G, NP_006166.3:p.Tyr1213Phe, NP_006166.3:p.Tyr1213Cys, NP_932326.2:p.Tyr1248Phe, NP_932326.2:p.Tyr1248Cys, XP_006717933.1:p.Tyr1213Phe, XP_006717933.1:p.Tyr1213Cys, XP_005269921.1:p.Tyr1213Phe, XP_005269921.1:p.Tyr1213Cys, XP_011538134.1:p.Tyr1248Phe, XP_011538134.1:p.Tyr1248Cys, XP_005269922.1:p.Tyr1212Phe, XP_005269922.1:p.Tyr1212Cys, XP_005269924.1:p.Tyr1248Phe, XP_005269924.1:p.Tyr1248Cys, NP_001309874.1:p.Tyr1212Phe, NP_001309874.1:p.Tyr1212Cys, NP_001248392.1:p.Tyr1248Phe, NP_001248392.1:p.Tyr1248Cys, XP_024303797.1:p.Tyr1248Phe, XP_024303797.1:p.Tyr1248Cys, XP_047281209.1:p.Tyr1213Phe, XP_047281209.1:p.Tyr1213Cys

              7.

              rs1486158202 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:113663388 (GRCh38)
                10:115423147 (GRCh37)
                Canonical SPDI:
                NC_000010.11:113663387:T:C
                Gene:
                NRAP (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.113663388T>C, NC_000010.10:g.115423147T>C, NM_006175.5:c.131A>G, NM_006175.4:c.131A>G, NM_198060.4:c.131A>G, NM_198060.3:c.131A>G, XM_006717870.3:c.131A>G, XM_006717870.2:c.131A>G, XM_006717870.1:c.131A>G, XM_005269864.3:c.131A>G, XM_005269864.2:c.131A>G, XM_005269864.1:c.131A>G, XM_011539832.3:c.131A>G, XM_011539832.2:c.131A>G, XM_011539832.1:c.131A>G, XM_005269865.3:c.131A>G, XM_005269865.2:c.131A>G, XM_005269865.1:c.131A>G, XM_005269867.3:c.131A>G, XM_005269867.2:c.131A>G, XM_005269867.1:c.131A>G, NM_001322945.2:c.131A>G, NM_001322945.1:c.131A>G, NM_001261463.2:c.131A>G, NM_001261463.1:c.131A>G, XM_024448029.2:c.131A>G, XM_024448029.1:c.131A>G, XM_047425253.1:c.131A>G, NP_006166.3:p.Asn44Ser, NP_932326.2:p.Asn44Ser, XP_006717933.1:p.Asn44Ser, XP_005269921.1:p.Asn44Ser, XP_011538134.1:p.Asn44Ser, XP_005269922.1:p.Asn44Ser, XP_005269924.1:p.Asn44Ser, NP_001309874.1:p.Asn44Ser, NP_001248392.1:p.Asn44Ser, XP_024303797.1:p.Asn44Ser, XP_047281209.1:p.Asn44Ser

                8.

                rs1485788950 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:113617503 (GRCh38)
                  10:115377262 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:113617502:G:A
                  Gene:
                  NRAP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1485422942 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:113663822 (GRCh38)
                    10:115423581 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:113663821:A:G
                    Gene:
                    NRAP (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.113663822A>G, NC_000010.10:g.115423581A>G, NM_006175.5:c.61T>C, NM_006175.4:c.61T>C, NM_198060.4:c.61T>C, NM_198060.3:c.61T>C, XM_006717870.3:c.61T>C, XM_006717870.2:c.61T>C, XM_006717870.1:c.61T>C, XM_005269864.3:c.61T>C, XM_005269864.2:c.61T>C, XM_005269864.1:c.61T>C, XM_011539832.3:c.61T>C, XM_011539832.2:c.61T>C, XM_011539832.1:c.61T>C, XM_005269865.3:c.61T>C, XM_005269865.2:c.61T>C, XM_005269865.1:c.61T>C, XM_005269867.3:c.61T>C, XM_005269867.2:c.61T>C, XM_005269867.1:c.61T>C, NM_001322945.2:c.61T>C, NM_001322945.1:c.61T>C, NM_001261463.2:c.61T>C, NM_001261463.1:c.61T>C, XM_024448029.2:c.61T>C, XM_024448029.1:c.61T>C, XM_047425253.1:c.61T>C, NP_006166.3:p.Cys21Arg, NP_932326.2:p.Cys21Arg, XP_006717933.1:p.Cys21Arg, XP_005269921.1:p.Cys21Arg, XP_011538134.1:p.Cys21Arg, XP_005269922.1:p.Cys21Arg, XP_005269924.1:p.Cys21Arg, NP_001309874.1:p.Cys21Arg, NP_001248392.1:p.Cys21Arg, XP_024303797.1:p.Cys21Arg, XP_047281209.1:p.Cys21Arg

                    10.

                    rs1484946500 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      10:113622084 (GRCh38)
                      10:115381843 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:113622083:A:T
                      Gene:
                      NRAP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.113622084A>T, NC_000010.10:g.115381843A>T, NM_006175.5:c.2449T>A, NM_006175.4:c.2449T>A, NM_198060.4:c.2554T>A, NM_198060.3:c.2554T>A, XM_006717870.3:c.2554T>A, XM_006717870.2:c.2554T>A, XM_006717870.1:c.2554T>A, XM_005269864.3:c.2449T>A, XM_005269864.2:c.2449T>A, XM_005269864.1:c.2449T>A, XM_011539832.3:c.2554T>A, XM_011539832.2:c.2554T>A, XM_011539832.1:c.2554T>A, XM_005269865.3:c.2446T>A, XM_005269865.2:c.2446T>A, XM_005269865.1:c.2446T>A, XM_005269867.3:c.2554T>A, XM_005269867.2:c.2554T>A, XM_005269867.1:c.2554T>A, NM_001322945.2:c.2446T>A, NM_001322945.1:c.2446T>A, NM_001261463.2:c.2554T>A, NM_001261463.1:c.2554T>A, XM_024448029.2:c.2554T>A, XM_024448029.1:c.2554T>A, XM_047425253.1:c.2554T>A, NP_006166.3:p.Ser817Thr, NP_932326.2:p.Ser852Thr, XP_006717933.1:p.Ser852Thr, XP_005269921.1:p.Ser817Thr, XP_011538134.1:p.Ser852Thr, XP_005269922.1:p.Ser816Thr, XP_005269924.1:p.Ser852Thr, NP_001309874.1:p.Ser816Thr, NP_001248392.1:p.Ser852Thr, XP_024303797.1:p.Ser852Thr, XP_047281209.1:p.Ser852Thr

                      11.

                      rs1482401826 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        10:113608479 (GRCh38)
                        10:115368238 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:113608478:A:C
                        Gene:
                        NRAP (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.113608479A>C, NC_000010.10:g.115368238A>C, NM_006175.5:c.3532T>G, NM_006175.4:c.3532T>G, NM_198060.4:c.3637T>G, NM_198060.3:c.3637T>G, XM_006717870.3:c.3532T>G, XM_006717870.2:c.3532T>G, XM_006717870.1:c.3532T>G, XM_005269864.3:c.3532T>G, XM_005269864.2:c.3532T>G, XM_005269864.1:c.3532T>G, XM_011539832.3:c.3637T>G, XM_011539832.2:c.3637T>G, XM_011539832.1:c.3637T>G, XM_005269865.3:c.3529T>G, XM_005269865.2:c.3529T>G, XM_005269865.1:c.3529T>G, XM_005269867.3:c.3637T>G, XM_005269867.2:c.3637T>G, XM_005269867.1:c.3637T>G, NM_001322945.2:c.3529T>G, NM_001322945.1:c.3529T>G, NM_001261463.2:c.3637T>G, NM_001261463.1:c.3637T>G, XM_024448029.2:c.3637T>G, XM_024448029.1:c.3637T>G, XM_047425253.1:c.3532T>G, NP_006166.3:p.Tyr1178Asp, NP_932326.2:p.Tyr1213Asp, XP_006717933.1:p.Tyr1178Asp, XP_005269921.1:p.Tyr1178Asp, XP_011538134.1:p.Tyr1213Asp, XP_005269922.1:p.Tyr1177Asp, XP_005269924.1:p.Tyr1213Asp, NP_001309874.1:p.Tyr1177Asp, NP_001248392.1:p.Tyr1213Asp, XP_024303797.1:p.Tyr1213Asp, XP_047281209.1:p.Tyr1178Asp

                        12.

                        rs1482212811 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:113589686 (GRCh38)
                          10:115349445 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:113589685:G:A
                          Gene:
                          HABP2 (Varview), NRAP (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.00002/5 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1482024495 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            10:113589007 (GRCh38)
                            10:115348766 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:113589006:G:C
                            Gene:
                            HABP2 (Varview), NRAP (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000111/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.113589007G>C, NC_000010.10:g.115348766G>C, NG_008956.1:g.40989G>C, NM_004132.5:c.*638G>C, NM_004132.4:c.*638G>C, NM_004132.3:c.*638G>C, NM_001177660.3:c.*638G>C, NM_001177660.2:c.*638G>C, NM_001177660.1:c.*638G>C, NM_006175.5:c.5056C>G, NM_006175.4:c.5056C>G, NM_198060.4:c.5161C>G, NM_198060.3:c.5161C>G, XM_006717870.3:c.5059C>G, XM_006717870.2:c.5059C>G, XM_006717870.1:c.5059C>G, XM_005269864.3:c.5059C>G, XM_005269864.2:c.5059C>G, XM_005269864.1:c.5059C>G, XM_011539832.3:c.5056C>G, XM_011539832.2:c.5056C>G, XM_011539832.1:c.5056C>G, XM_005269865.3:c.5056C>G, XM_005269865.2:c.5056C>G, XM_005269865.1:c.5056C>G, XM_005269867.3:c.4852C>G, XM_005269867.2:c.4852C>G, XM_005269867.1:c.4852C>G, NM_001322945.2:c.5053C>G, NM_001322945.1:c.5053C>G, NM_001261463.2:c.5164C>G, NM_001261463.1:c.5164C>G, XM_024448029.2:c.4849C>G, XM_024448029.1:c.4849C>G, XM_047425253.1:c.5056C>G, NP_006166.3:p.His1686Asp, NP_932326.2:p.His1721Asp, XP_006717933.1:p.His1687Asp, XP_005269921.1:p.His1687Asp, XP_011538134.1:p.His1686Asp, XP_005269922.1:p.His1686Asp, XP_005269924.1:p.His1618Asp, NP_001309874.1:p.His1685Asp, NP_001248392.1:p.His1722Asp, XP_024303797.1:p.His1617Asp, XP_047281209.1:p.His1686Asp

                            14.

                            rs1481458678 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              10:113620684 (GRCh38)
                              10:115380443 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:113620683:A:G,NC_000010.11:113620683:A:T
                              Gene:
                              NRAP (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              T=0.000546/1 (Korea1K)
                              HGVS:
                              NC_000010.11:g.113620684A>G, NC_000010.11:g.113620684A>T, NC_000010.10:g.115380443A>G, NC_000010.10:g.115380443A>T, NM_006175.5:c.2689T>C, NM_006175.5:c.2689T>A, NM_006175.4:c.2689T>C, NM_006175.4:c.2689T>A, NM_198060.4:c.2794T>C, NM_198060.4:c.2794T>A, NM_198060.3:c.2794T>C, NM_198060.3:c.2794T>A, XM_005269864.3:c.2689T>C, XM_005269864.3:c.2689T>A, XM_005269864.2:c.2689T>C, XM_005269864.2:c.2689T>A, XM_005269864.1:c.2689T>C, XM_005269864.1:c.2689T>A, XM_011539832.3:c.2794T>C, XM_011539832.3:c.2794T>A, XM_011539832.2:c.2794T>C, XM_011539832.2:c.2794T>A, XM_011539832.1:c.2794T>C, XM_011539832.1:c.2794T>A, XM_005269865.3:c.2686T>C, XM_005269865.3:c.2686T>A, XM_005269865.2:c.2686T>C, XM_005269865.2:c.2686T>A, XM_005269865.1:c.2686T>C, XM_005269865.1:c.2686T>A, XM_005269867.3:c.2794T>C, XM_005269867.3:c.2794T>A, XM_005269867.2:c.2794T>C, XM_005269867.2:c.2794T>A, XM_005269867.1:c.2794T>C, XM_005269867.1:c.2794T>A, NM_001322945.2:c.2686T>C, NM_001322945.2:c.2686T>A, NM_001322945.1:c.2686T>C, NM_001322945.1:c.2686T>A, NM_001261463.2:c.2794T>C, NM_001261463.2:c.2794T>A, NM_001261463.1:c.2794T>C, NM_001261463.1:c.2794T>A, XM_024448029.2:c.2794T>C, XM_024448029.2:c.2794T>A, XM_024448029.1:c.2794T>C, XM_024448029.1:c.2794T>A, NP_006166.3:p.Trp897Arg, NP_006166.3:p.Trp897Arg, NP_932326.2:p.Trp932Arg, NP_932326.2:p.Trp932Arg, XP_005269921.1:p.Trp897Arg, XP_005269921.1:p.Trp897Arg, XP_011538134.1:p.Trp932Arg, XP_011538134.1:p.Trp932Arg, XP_005269922.1:p.Trp896Arg, XP_005269922.1:p.Trp896Arg, XP_005269924.1:p.Trp932Arg, XP_005269924.1:p.Trp932Arg, NP_001309874.1:p.Trp896Arg, NP_001309874.1:p.Trp896Arg, NP_001248392.1:p.Trp932Arg, NP_001248392.1:p.Trp932Arg, XP_024303797.1:p.Trp932Arg, XP_024303797.1:p.Trp932Arg

                              15.

                              rs1480660608 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:113614902 (GRCh38)
                                10:115374661 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:113614901:A:G
                                Gene:
                                NRAP (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_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:

                                16.

                                rs1480510912 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  10:113642950 (GRCh38)
                                  10:115402709 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:113642949:G:A
                                  Gene:
                                  NRAP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_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_000010.11:g.113642950G>A, NC_000010.10:g.115402709G>A, NM_198060.4:c.1199C>T, NM_198060.3:c.1199C>T, XM_006717870.3:c.1199C>T, XM_006717870.2:c.1199C>T, XM_006717870.1:c.1199C>T, XM_011539832.3:c.1199C>T, XM_011539832.2:c.1199C>T, XM_011539832.1:c.1199C>T, XM_005269865.3:c.1199C>T, XM_005269865.2:c.1199C>T, XM_005269865.1:c.1199C>T, XM_005269867.3:c.1199C>T, XM_005269867.2:c.1199C>T, XM_005269867.1:c.1199C>T, NM_001322945.2:c.1199C>T, NM_001322945.1:c.1199C>T, NM_001261463.2:c.1199C>T, NM_001261463.1:c.1199C>T, XM_024448029.2:c.1199C>T, XM_024448029.1:c.1199C>T, XM_047425253.1:c.1199C>T, NP_932326.2:p.Ser400Leu, XP_006717933.1:p.Ser400Leu, XP_011538134.1:p.Ser400Leu, XP_005269922.1:p.Ser400Leu, XP_005269924.1:p.Ser400Leu, NP_001309874.1:p.Ser400Leu, NP_001248392.1:p.Ser400Leu, XP_024303797.1:p.Ser400Leu, XP_047281209.1:p.Ser400Leu

                                  17.

                                  rs1480437659 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    10:113589745 (GRCh38)
                                    10:115349504 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:113589744:G:C,NC_000010.11:113589744:G:T
                                    Gene:
                                    HABP2 (Varview), NRAP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000075/3 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    C=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000010.11:g.113589745G>C, NC_000010.11:g.113589745G>T, NC_000010.10:g.115349504G>C, NC_000010.10:g.115349504G>T, NG_008956.1:g.41727G>C, NG_008956.1:g.41727G>T, NM_006175.5:c.4904C>G, NM_006175.5:c.4904C>A, NM_006175.4:c.4904C>G, NM_006175.4:c.4904C>A, NM_198060.4:c.5009C>G, NM_198060.4:c.5009C>A, NM_198060.3:c.5009C>G, NM_198060.3:c.5009C>A, XM_006717870.3:c.4904C>G, XM_006717870.3:c.4904C>A, XM_006717870.2:c.4904C>G, XM_006717870.2:c.4904C>A, XM_006717870.1:c.4904C>G, XM_006717870.1:c.4904C>A, XM_005269864.3:c.4904C>G, XM_005269864.3:c.4904C>A, XM_005269864.2:c.4904C>G, XM_005269864.2:c.4904C>A, XM_005269864.1:c.4904C>G, XM_005269864.1:c.4904C>A, XM_011539832.3:c.4901C>G, XM_011539832.3:c.4901C>A, XM_011539832.2:c.4901C>G, XM_011539832.2:c.4901C>A, XM_011539832.1:c.4901C>G, XM_011539832.1:c.4901C>A, XM_005269865.3:c.4901C>G, XM_005269865.3:c.4901C>A, XM_005269865.2:c.4901C>G, XM_005269865.2:c.4901C>A, XM_005269865.1:c.4901C>G, XM_005269865.1:c.4901C>A, XM_005269867.3:c.4697C>G, XM_005269867.3:c.4697C>A, XM_005269867.2:c.4697C>G, XM_005269867.2:c.4697C>A, XM_005269867.1:c.4697C>G, XM_005269867.1:c.4697C>A, NM_001322945.2:c.4901C>G, NM_001322945.2:c.4901C>A, NM_001322945.1:c.4901C>G, NM_001322945.1:c.4901C>A, NM_001261463.2:c.5009C>G, NM_001261463.2:c.5009C>A, NM_001261463.1:c.5009C>G, NM_001261463.1:c.5009C>A, XM_024448029.2:c.4697C>G, XM_024448029.2:c.4697C>A, XM_024448029.1:c.4697C>G, XM_024448029.1:c.4697C>A, XM_047425253.1:c.4904C>G, XM_047425253.1:c.4904C>A, NP_006166.3:p.Pro1635Arg, NP_006166.3:p.Pro1635His, NP_932326.2:p.Pro1670Arg, NP_932326.2:p.Pro1670His, XP_006717933.1:p.Pro1635Arg, XP_006717933.1:p.Pro1635His, XP_005269921.1:p.Pro1635Arg, XP_005269921.1:p.Pro1635His, XP_011538134.1:p.Pro1634Arg, XP_011538134.1:p.Pro1634His, XP_005269922.1:p.Pro1634Arg, XP_005269922.1:p.Pro1634His, XP_005269924.1:p.Pro1566Arg, XP_005269924.1:p.Pro1566His, NP_001309874.1:p.Pro1634Arg, NP_001309874.1:p.Pro1634His, NP_001248392.1:p.Pro1670Arg, NP_001248392.1:p.Pro1670His, XP_024303797.1:p.Pro1566Arg, XP_024303797.1:p.Pro1566His, XP_047281209.1:p.Pro1635Arg, XP_047281209.1:p.Pro1635His

                                    18.

                                    rs1479920657 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:113605815 (GRCh38)
                                      10:115365574 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:113605814:T:C
                                      Gene:
                                      NRAP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.113605815T>C, NC_000010.10:g.115365574T>C, NM_006175.5:c.3757A>G, NM_006175.4:c.3757A>G, NM_198060.4:c.3862A>G, NM_198060.3:c.3862A>G, XM_006717870.3:c.3757A>G, XM_006717870.2:c.3757A>G, XM_006717870.1:c.3757A>G, XM_005269864.3:c.3757A>G, XM_005269864.2:c.3757A>G, XM_005269864.1:c.3757A>G, XM_011539832.3:c.3862A>G, XM_011539832.2:c.3862A>G, XM_011539832.1:c.3862A>G, XM_005269865.3:c.3754A>G, XM_005269865.2:c.3754A>G, XM_005269865.1:c.3754A>G, XM_005269867.3:c.3862A>G, XM_005269867.2:c.3862A>G, XM_005269867.1:c.3862A>G, NM_001322945.2:c.3754A>G, NM_001322945.1:c.3754A>G, NM_001261463.2:c.3862A>G, NM_001261463.1:c.3862A>G, XM_024448029.2:c.3862A>G, XM_024448029.1:c.3862A>G, XM_047425253.1:c.3757A>G, NP_006166.3:p.Ile1253Val, NP_932326.2:p.Ile1288Val, XP_006717933.1:p.Ile1253Val, XP_005269921.1:p.Ile1253Val, XP_011538134.1:p.Ile1288Val, XP_005269922.1:p.Ile1252Val, XP_005269924.1:p.Ile1288Val, NP_001309874.1:p.Ile1252Val, NP_001248392.1:p.Ile1288Val, XP_024303797.1:p.Ile1288Val, XP_047281209.1:p.Ile1253Val

                                      19.

                                      rs1479563208 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:113640248 (GRCh38)
                                        10:115400007 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:113640247:C:T
                                        Gene:
                                        NRAP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000010.11:g.113640248C>T, NC_000010.10:g.115400007C>T, NM_006175.5:c.1302G>A, NM_006175.4:c.1302G>A, NM_198060.4:c.1407G>A, NM_198060.3:c.1407G>A, XM_006717870.3:c.1407G>A, XM_006717870.2:c.1407G>A, XM_006717870.1:c.1407G>A, XM_005269864.3:c.1302G>A, XM_005269864.2:c.1302G>A, XM_005269864.1:c.1302G>A, XM_011539832.3:c.1407G>A, XM_011539832.2:c.1407G>A, XM_011539832.1:c.1407G>A, XM_005269865.3:c.1407G>A, XM_005269865.2:c.1407G>A, XM_005269865.1:c.1407G>A, XM_005269867.3:c.1407G>A, XM_005269867.2:c.1407G>A, XM_005269867.1:c.1407G>A, NM_001322945.2:c.1407G>A, NM_001322945.1:c.1407G>A, NM_001261463.2:c.1407G>A, NM_001261463.1:c.1407G>A, XM_024448029.2:c.1407G>A, XM_024448029.1:c.1407G>A, XM_047425253.1:c.1407G>A, NP_006166.3:p.Met434Ile, NP_932326.2:p.Met469Ile, XP_006717933.1:p.Met469Ile, XP_005269921.1:p.Met434Ile, XP_011538134.1:p.Met469Ile, XP_005269922.1:p.Met469Ile, XP_005269924.1:p.Met469Ile, NP_001309874.1:p.Met469Ile, NP_001248392.1:p.Met469Ile, XP_024303797.1:p.Met469Ile, XP_047281209.1:p.Met469Ile

                                        20.

                                        rs1479326438 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:113657533 (GRCh38)
                                          10:115417292 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:113657532:A:G
                                          Gene:
                                          NRAP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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