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 430

1.

rs1488474756 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:88913423 (GRCh38)
    10:90673180 (GRCh37)
    Canonical SPDI:
    NC_000010.11:88913422:C:T
    Gene:
    STAMBPL1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000028/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000010.11:g.88913423C>T, NC_000010.10:g.90673180C>T, XM_006717930.4:c.743C>T, XM_006717930.3:c.743C>T, XM_006717930.2:c.743C>T, XM_006717930.1:c.743C>T, NM_020799.4:c.743C>T, NM_020799.3:c.743C>T, XM_011539985.3:c.743C>T, XM_011539985.2:c.743C>T, XM_011539985.1:c.743C>T, XM_017016457.3:c.743C>T, XM_017016457.2:c.743C>T, XM_017016457.1:c.743C>T, XM_011539983.2:c.743C>T, XM_011539983.1:c.743C>T, XM_017016456.2:c.743C>T, XM_017016456.1:c.743C>T, XM_017016458.2:c.425C>T, XM_017016458.1:c.425C>T, XM_047425551.1:c.743C>T, XM_047425553.1:c.743C>T, XM_047425554.1:c.743C>T, XM_047425552.1:c.743C>T, XM_047425555.1:c.743C>T, XP_006717993.1:p.Ala248Val, NP_065850.1:p.Ala248Val, XP_011538287.1:p.Ala248Val, XP_016871946.1:p.Ala248Val, XP_011538285.1:p.Ala248Val, XP_016871945.1:p.Ala248Val, XP_016871947.1:p.Ala142Val, XP_047281507.1:p.Ala248Val, XP_047281509.1:p.Ala248Val, XP_047281510.1:p.Ala248Val, XP_047281508.1:p.Ala248Val, XP_047281511.1:p.Ala248Val

    2.

    rs1487336114 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      10:88914534 (GRCh38)
      10:90674291 (GRCh37)
      Canonical SPDI:
      NC_000010.11:88914533:A:T
      Gene:
      STAMBPL1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by cluster
      HGVS:
      NC_000010.11:g.88914534A>T, NC_000010.10:g.90674291A>T, XM_006717930.4:c.779A>T, XM_006717930.3:c.779A>T, XM_006717930.2:c.779A>T, XM_006717930.1:c.779A>T, NM_020799.4:c.779A>T, NM_020799.3:c.779A>T, XM_011539985.3:c.779A>T, XM_011539985.2:c.779A>T, XM_011539985.1:c.779A>T, XM_017016457.3:c.779A>T, XM_017016457.2:c.779A>T, XM_017016457.1:c.779A>T, XM_011539983.2:c.779A>T, XM_011539983.1:c.779A>T, XM_017016456.2:c.779A>T, XM_017016456.1:c.779A>T, XM_017016458.2:c.461A>T, XM_017016458.1:c.461A>T, XM_047425551.1:c.779A>T, XM_047425553.1:c.779A>T, XM_047425554.1:c.779A>T, XM_047425552.1:c.779A>T, XM_047425555.1:c.779A>T, XP_006717993.1:p.Asn260Ile, NP_065850.1:p.Asn260Ile, XP_011538287.1:p.Asn260Ile, XP_016871946.1:p.Asn260Ile, XP_011538285.1:p.Asn260Ile, XP_016871945.1:p.Asn260Ile, XP_016871947.1:p.Asn154Ile, XP_047281507.1:p.Asn260Ile, XP_047281509.1:p.Asn260Ile, XP_047281510.1:p.Asn260Ile, XP_047281508.1:p.Asn260Ile, XP_047281511.1:p.Asn260Ile

      3.

      rs1485379932 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:88922339 (GRCh38)
        10:90682096 (GRCh37)
        Canonical SPDI:
        NC_000010.11:88922338:C:T
        Gene:
        STAMBPL1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.88922339C>T, NC_000010.10:g.90682096C>T, XM_006717930.4:c.1157C>T, XM_006717930.3:c.1157C>T, XM_006717930.2:c.1157C>T, XM_006717930.1:c.1157C>T, NM_020799.4:c.1157C>T, NM_020799.3:c.1157C>T, XM_011539985.3:c.1157C>T, XM_011539985.2:c.1157C>T, XM_011539985.1:c.1157C>T, XM_017016457.3:c.1019C>T, XM_017016457.2:c.1019C>T, XM_017016457.1:c.1019C>T, XM_011539983.2:c.1157C>T, XM_011539983.1:c.1157C>T, XM_017016456.2:c.1157C>T, XM_017016456.1:c.1157C>T, XM_017016458.2:c.839C>T, XM_017016458.1:c.839C>T, XM_047425551.1:c.1157C>T, XM_047425553.1:c.1157C>T, XM_047425554.1:c.1157C>T, XM_047425552.1:c.1157C>T, XM_047425555.1:c.1019C>T, XP_006717993.1:p.Thr386Ile, NP_065850.1:p.Thr386Ile, XP_011538287.1:p.Thr386Ile, XP_016871946.1:p.Thr340Ile, XP_011538285.1:p.Thr386Ile, XP_016871945.1:p.Thr386Ile, XP_016871947.1:p.Thr280Ile, XP_047281507.1:p.Thr386Ile, XP_047281509.1:p.Thr386Ile, XP_047281510.1:p.Thr386Ile, XP_047281508.1:p.Thr386Ile, XP_047281511.1:p.Thr340Ile

        4.

        rs1475464054 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:88911005 (GRCh38)
          10:90670762 (GRCh37)
          Canonical SPDI:
          NC_000010.11:88911004:A:G
          Gene:
          STAMBPL1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:

          5.

          rs1475098451 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            10:88914656 (GRCh38)
            10:90674413 (GRCh37)
            Canonical SPDI:
            NC_000010.11:88914655:C:A
            Gene:
            STAMBPL1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            HGVS:
            NC_000010.11:g.88914656C>A, NC_000010.10:g.90674413C>A, XM_006717930.4:c.901C>A, XM_006717930.3:c.901C>A, XM_006717930.2:c.901C>A, XM_006717930.1:c.901C>A, NM_020799.4:c.901C>A, NM_020799.3:c.901C>A, XM_011539985.3:c.901C>A, XM_011539985.2:c.901C>A, XM_011539985.1:c.901C>A, XM_017016457.3:c.901C>A, XM_017016457.2:c.901C>A, XM_017016457.1:c.901C>A, XM_011539983.2:c.901C>A, XM_011539983.1:c.901C>A, XM_017016456.2:c.901C>A, XM_017016456.1:c.901C>A, XM_017016458.2:c.583C>A, XM_017016458.1:c.583C>A, XM_047425551.1:c.901C>A, XM_047425553.1:c.901C>A, XM_047425554.1:c.901C>A, XM_047425552.1:c.901C>A, XM_047425555.1:c.901C>A, XP_006717993.1:p.Leu301Met, NP_065850.1:p.Leu301Met, XP_011538287.1:p.Leu301Met, XP_016871946.1:p.Leu301Met, XP_011538285.1:p.Leu301Met, XP_016871945.1:p.Leu301Met, XP_016871947.1:p.Leu195Met, XP_047281507.1:p.Leu301Met, XP_047281509.1:p.Leu301Met, XP_047281510.1:p.Leu301Met, XP_047281508.1:p.Leu301Met, XP_047281511.1:p.Leu301Met

            6.

            rs1474674657 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:88908765 (GRCh38)
              10:90668522 (GRCh37)
              Canonical SPDI:
              NC_000010.11:88908764:G:A
              Gene:
              STAMBPL1 (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1470992795 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:88908748 (GRCh38)
                10:90668505 (GRCh37)
                Canonical SPDI:
                NC_000010.11:88908747:G:A
                Gene:
                STAMBPL1 (Varview)
                Functional Consequence:
                coding_sequence_variant,5_prime_UTR_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_000010.11:g.88908748G>A, NC_000010.10:g.90668505G>A, XM_006717930.4:c.295G>A, XM_006717930.3:c.295G>A, XM_006717930.2:c.295G>A, XM_006717930.1:c.295G>A, NM_020799.4:c.295G>A, NM_020799.3:c.295G>A, XM_011539985.3:c.295G>A, XM_011539985.2:c.295G>A, XM_011539985.1:c.295G>A, XM_017016457.3:c.295G>A, XM_017016457.2:c.295G>A, XM_017016457.1:c.295G>A, XM_011539983.2:c.295G>A, XM_011539983.1:c.295G>A, XM_017016456.2:c.295G>A, XM_017016456.1:c.295G>A, XM_017016458.2:c.-24G>A, XM_017016458.1:c.-24G>A, XM_047425551.1:c.295G>A, XM_047425553.1:c.295G>A, XM_047425554.1:c.295G>A, XM_047425552.1:c.295G>A, XM_047425555.1:c.295G>A, NM_017597.1:c.*158G>A, XP_006717993.1:p.Ala99Thr, NP_065850.1:p.Ala99Thr, XP_011538287.1:p.Ala99Thr, XP_016871946.1:p.Ala99Thr, XP_011538285.1:p.Ala99Thr, XP_016871945.1:p.Ala99Thr, XP_047281507.1:p.Ala99Thr, XP_047281509.1:p.Ala99Thr, XP_047281510.1:p.Ala99Thr, XP_047281508.1:p.Ala99Thr, XP_047281511.1:p.Ala99Thr

                8.

                rs1468425137 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  10:88914563 (GRCh38)
                  10:90674321 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:88914563:TTTT:TTTTT
                  Gene:
                  STAMBPL1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TTTTT=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000010.11:g.88914567dup, NC_000010.10:g.90674324dup, XM_006717930.4:c.812dup, XM_006717930.3:c.812dup, XM_006717930.2:c.812dup, XM_006717930.1:c.812dup, NM_020799.4:c.812dup, NM_020799.3:c.812dup, XM_011539985.3:c.812dup, XM_011539985.2:c.812dup, XM_011539985.1:c.812dup, XM_017016457.3:c.812dup, XM_017016457.2:c.812dup, XM_017016457.1:c.812dup, XM_011539983.2:c.812dup, XM_011539983.1:c.812dup, XM_017016456.2:c.812dup, XM_017016456.1:c.812dup, XM_017016458.2:c.494dup, XM_017016458.1:c.494dup, XM_047425551.1:c.812dup, XM_047425553.1:c.812dup, XM_047425554.1:c.812dup, XM_047425552.1:c.812dup, XM_047425555.1:c.812dup, XP_006717993.1:p.Leu271fs, NP_065850.1:p.Leu271fs, XP_011538287.1:p.Leu271fs, XP_016871946.1:p.Leu271fs, XP_011538285.1:p.Leu271fs, XP_016871945.1:p.Leu271fs, XP_016871947.1:p.Leu165fs, XP_047281507.1:p.Leu271fs, XP_047281509.1:p.Leu271fs, XP_047281510.1:p.Leu271fs, XP_047281508.1:p.Leu271fs, XP_047281511.1:p.Leu271fs

                  9.

                  rs1466738750 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,G [Show Flanks]
                    Chromosome:
                    10:88905454 (GRCh38)
                    10:90665211 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:88905453:T:A,NC_000010.11:88905453:T:G
                    Gene:
                    STAMBPL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000010.11:g.88905454T>A, NC_000010.11:g.88905454T>G, NC_000010.10:g.90665211T>A, NC_000010.10:g.90665211T>G, XM_006717930.4:c.42T>A, XM_006717930.4:c.42T>G, XM_006717930.3:c.42T>A, XM_006717930.3:c.42T>G, XM_006717930.2:c.42T>A, XM_006717930.2:c.42T>G, XM_006717930.1:c.42T>A, XM_006717930.1:c.42T>G, NM_020799.4:c.42T>A, NM_020799.4:c.42T>G, NM_020799.3:c.42T>A, NM_020799.3:c.42T>G, XM_011539985.3:c.42T>A, XM_011539985.3:c.42T>G, XM_011539985.2:c.42T>A, XM_011539985.2:c.42T>G, XM_011539985.1:c.42T>A, XM_011539985.1:c.42T>G, XM_017016457.3:c.42T>A, XM_017016457.3:c.42T>G, XM_017016457.2:c.42T>A, XM_017016457.2:c.42T>G, XM_017016457.1:c.42T>A, XM_017016457.1:c.42T>G, XM_011539983.2:c.42T>A, XM_011539983.2:c.42T>G, XM_011539983.1:c.42T>A, XM_011539983.1:c.42T>G, XM_017016456.2:c.42T>A, XM_017016456.2:c.42T>G, XM_017016456.1:c.42T>A, XM_017016456.1:c.42T>G, XM_047425551.1:c.42T>A, XM_047425551.1:c.42T>G, XM_047425553.1:c.42T>A, XM_047425553.1:c.42T>G, XM_047425554.1:c.42T>A, XM_047425554.1:c.42T>G, XM_047425552.1:c.42T>A, XM_047425552.1:c.42T>G, XM_047425555.1:c.42T>A, XM_047425555.1:c.42T>G

                    10.

                    rs1466728860 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:88922421 (GRCh38)
                      10:90682178 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:88922420:G:T
                      Gene:
                      STAMBPL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000010.11:g.88922421G>T, NC_000010.10:g.90682178G>T, XM_006717930.4:c.1239G>T, XM_006717930.3:c.1239G>T, XM_006717930.2:c.1239G>T, XM_006717930.1:c.1239G>T, NM_020799.4:c.1239G>T, NM_020799.3:c.1239G>T, XM_011539985.3:c.1239G>T, XM_011539985.2:c.1239G>T, XM_011539985.1:c.1239G>T, XM_017016457.3:c.1101G>T, XM_017016457.2:c.1101G>T, XM_017016457.1:c.1101G>T, XM_011539983.2:c.1239G>T, XM_011539983.1:c.1239G>T, XM_017016456.2:c.1239G>T, XM_017016456.1:c.1239G>T, XM_017016458.2:c.921G>T, XM_017016458.1:c.921G>T, XM_047425551.1:c.1239G>T, XM_047425553.1:c.1239G>T, XM_047425554.1:c.1239G>T, XM_047425552.1:c.1239G>T, XM_047425555.1:c.1101G>T, XP_006717993.1:p.Glu413Asp, NP_065850.1:p.Glu413Asp, XP_011538287.1:p.Glu413Asp, XP_016871946.1:p.Glu367Asp, XP_011538285.1:p.Glu413Asp, XP_016871945.1:p.Glu413Asp, XP_016871947.1:p.Glu307Asp, XP_047281507.1:p.Glu413Asp, XP_047281509.1:p.Glu413Asp, XP_047281510.1:p.Glu413Asp, XP_047281508.1:p.Glu413Asp, XP_047281511.1:p.Glu367Asp

                      11.

                      rs1466126742 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        10:88913358 (GRCh38)
                        10:90673115 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:88913357:T:C
                        Gene:
                        STAMBPL1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1464079412 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:88908718 (GRCh38)
                          10:90668475 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:88908717:C:T
                          Gene:
                          STAMBPL1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.88908718C>T, NC_000010.10:g.90668475C>T, XM_006717930.4:c.265C>T, XM_006717930.3:c.265C>T, XM_006717930.2:c.265C>T, XM_006717930.1:c.265C>T, NM_020799.4:c.265C>T, NM_020799.3:c.265C>T, XM_011539985.3:c.265C>T, XM_011539985.2:c.265C>T, XM_011539985.1:c.265C>T, XM_017016457.3:c.265C>T, XM_017016457.2:c.265C>T, XM_017016457.1:c.265C>T, XM_011539983.2:c.265C>T, XM_011539983.1:c.265C>T, XM_017016456.2:c.265C>T, XM_017016456.1:c.265C>T, XM_017016458.2:c.-54C>T, XM_017016458.1:c.-54C>T, XM_047425551.1:c.265C>T, XM_047425553.1:c.265C>T, XM_047425554.1:c.265C>T, XM_047425552.1:c.265C>T, XM_047425555.1:c.265C>T, NM_017597.1:c.*128C>T, XP_006717993.1:p.Leu89Phe, NP_065850.1:p.Leu89Phe, XP_011538287.1:p.Leu89Phe, XP_016871946.1:p.Leu89Phe, XP_011538285.1:p.Leu89Phe, XP_016871945.1:p.Leu89Phe, XP_047281507.1:p.Leu89Phe, XP_047281509.1:p.Leu89Phe, XP_047281510.1:p.Leu89Phe, XP_047281508.1:p.Leu89Phe, XP_047281511.1:p.Leu89Phe

                          13.

                          rs1458855563 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:88910933 (GRCh38)
                            10:90670690 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:88910932:A:G
                            Gene:
                            STAMBPL1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1456955429 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              10:88914535 (GRCh38)
                              10:90674292 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:88914534:T:G
                              Gene:
                              STAMBPL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000010.11:g.88914535T>G, NC_000010.10:g.90674292T>G, XM_006717930.4:c.780T>G, XM_006717930.3:c.780T>G, XM_006717930.2:c.780T>G, XM_006717930.1:c.780T>G, NM_020799.4:c.780T>G, NM_020799.3:c.780T>G, XM_011539985.3:c.780T>G, XM_011539985.2:c.780T>G, XM_011539985.1:c.780T>G, XM_017016457.3:c.780T>G, XM_017016457.2:c.780T>G, XM_017016457.1:c.780T>G, XM_011539983.2:c.780T>G, XM_011539983.1:c.780T>G, XM_017016456.2:c.780T>G, XM_017016456.1:c.780T>G, XM_017016458.2:c.462T>G, XM_017016458.1:c.462T>G, XM_047425551.1:c.780T>G, XM_047425553.1:c.780T>G, XM_047425554.1:c.780T>G, XM_047425552.1:c.780T>G, XM_047425555.1:c.780T>G, XP_006717993.1:p.Asn260Lys, NP_065850.1:p.Asn260Lys, XP_011538287.1:p.Asn260Lys, XP_016871946.1:p.Asn260Lys, XP_011538285.1:p.Asn260Lys, XP_016871945.1:p.Asn260Lys, XP_016871947.1:p.Asn154Lys, XP_047281507.1:p.Asn260Lys, XP_047281509.1:p.Asn260Lys, XP_047281510.1:p.Asn260Lys, XP_047281508.1:p.Asn260Lys, XP_047281511.1:p.Asn260Lys

                              15.

                              rs1448565095 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                10:88922407 (GRCh38)
                                10:90682164 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:88922406:C:G
                                Gene:
                                STAMBPL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.88922407C>G, NC_000010.10:g.90682164C>G, XM_006717930.4:c.1225C>G, XM_006717930.3:c.1225C>G, XM_006717930.2:c.1225C>G, XM_006717930.1:c.1225C>G, NM_020799.4:c.1225C>G, NM_020799.3:c.1225C>G, XM_011539985.3:c.1225C>G, XM_011539985.2:c.1225C>G, XM_011539985.1:c.1225C>G, XM_017016457.3:c.1087C>G, XM_017016457.2:c.1087C>G, XM_017016457.1:c.1087C>G, XM_011539983.2:c.1225C>G, XM_011539983.1:c.1225C>G, XM_017016456.2:c.1225C>G, XM_017016456.1:c.1225C>G, XM_017016458.2:c.907C>G, XM_017016458.1:c.907C>G, XM_047425551.1:c.1225C>G, XM_047425553.1:c.1225C>G, XM_047425554.1:c.1225C>G, XM_047425552.1:c.1225C>G, XM_047425555.1:c.1087C>G, XP_006717993.1:p.Pro409Ala, NP_065850.1:p.Pro409Ala, XP_011538287.1:p.Pro409Ala, XP_016871946.1:p.Pro363Ala, XP_011538285.1:p.Pro409Ala, XP_016871945.1:p.Pro409Ala, XP_016871947.1:p.Pro303Ala, XP_047281507.1:p.Pro409Ala, XP_047281509.1:p.Pro409Ala, XP_047281510.1:p.Pro409Ala, XP_047281508.1:p.Pro409Ala, XP_047281511.1:p.Pro363Ala

                                16.

                                rs1447784895 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:88923194 (GRCh38)
                                  10:90682951 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:88923193:C:T
                                  Gene:
                                  STAMBPL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1446934194 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    10:88916808 (GRCh38)
                                    10:90676565 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:88916807:A:G,NC_000010.11:88916807:A:T
                                    Gene:
                                    STAMBPL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.88916808A>G, NC_000010.11:g.88916808A>T, NC_000010.10:g.90676565A>G, NC_000010.10:g.90676565A>T, XM_006717930.4:c.1032A>G, XM_006717930.4:c.1032A>T, XM_006717930.3:c.1032A>G, XM_006717930.3:c.1032A>T, XM_006717930.2:c.1032A>G, XM_006717930.2:c.1032A>T, XM_006717930.1:c.1032A>G, XM_006717930.1:c.1032A>T, NM_020799.4:c.1032A>G, NM_020799.4:c.1032A>T, NM_020799.3:c.1032A>G, NM_020799.3:c.1032A>T, XM_011539985.3:c.1032A>G, XM_011539985.3:c.1032A>T, XM_011539985.2:c.1032A>G, XM_011539985.2:c.1032A>T, XM_011539985.1:c.1032A>G, XM_011539985.1:c.1032A>T, XM_011539983.2:c.1032A>G, XM_011539983.2:c.1032A>T, XM_011539983.1:c.1032A>G, XM_011539983.1:c.1032A>T, XM_017016456.2:c.1032A>G, XM_017016456.2:c.1032A>T, XM_017016456.1:c.1032A>G, XM_017016456.1:c.1032A>T, XM_017016458.2:c.714A>G, XM_017016458.2:c.714A>T, XM_017016458.1:c.714A>G, XM_017016458.1:c.714A>T, XM_047425551.1:c.1032A>G, XM_047425551.1:c.1032A>T, XM_047425553.1:c.1032A>G, XM_047425553.1:c.1032A>T, XM_047425554.1:c.1032A>G, XM_047425554.1:c.1032A>T, XM_047425552.1:c.1032A>G, XM_047425552.1:c.1032A>T

                                    18.

                                    rs1446675709 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:88922399 (GRCh38)
                                      10:90682156 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:88922398:G:A
                                      Gene:
                                      STAMBPL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000108/2 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000010.11:g.88922399G>A, NC_000010.10:g.90682156G>A, XM_006717930.4:c.1217G>A, XM_006717930.3:c.1217G>A, XM_006717930.2:c.1217G>A, XM_006717930.1:c.1217G>A, NM_020799.4:c.1217G>A, NM_020799.3:c.1217G>A, XM_011539985.3:c.1217G>A, XM_011539985.2:c.1217G>A, XM_011539985.1:c.1217G>A, XM_017016457.3:c.1079G>A, XM_017016457.2:c.1079G>A, XM_017016457.1:c.1079G>A, XM_011539983.2:c.1217G>A, XM_011539983.1:c.1217G>A, XM_017016456.2:c.1217G>A, XM_017016456.1:c.1217G>A, XM_017016458.2:c.899G>A, XM_017016458.1:c.899G>A, XM_047425551.1:c.1217G>A, XM_047425553.1:c.1217G>A, XM_047425554.1:c.1217G>A, XM_047425552.1:c.1217G>A, XM_047425555.1:c.1079G>A, XP_006717993.1:p.Gly406Asp, NP_065850.1:p.Gly406Asp, XP_011538287.1:p.Gly406Asp, XP_016871946.1:p.Gly360Asp, XP_011538285.1:p.Gly406Asp, XP_016871945.1:p.Gly406Asp, XP_016871947.1:p.Gly300Asp, XP_047281507.1:p.Gly406Asp, XP_047281509.1:p.Gly406Asp, XP_047281510.1:p.Gly406Asp, XP_047281508.1:p.Gly406Asp, XP_047281511.1:p.Gly360Asp

                                      19.

                                      rs1445438706 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:88913322 (GRCh38)
                                        10:90673079 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:88913321:T:C
                                        Gene:
                                        STAMBPL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1443904151 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:88921332 (GRCh38)
                                          10:90681089 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:88921331:A:G
                                          Gene:
                                          STAMBPL1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.88921332A>G, NC_000010.10:g.90681089A>G, XM_006717930.4:c.1091A>G, XM_006717930.3:c.1091A>G, XM_006717930.2:c.1091A>G, XM_006717930.1:c.1091A>G, NM_020799.4:c.1091A>G, NM_020799.3:c.1091A>G, XM_011539985.3:c.1091A>G, XM_011539985.2:c.1091A>G, XM_011539985.1:c.1091A>G, XM_017016457.3:c.953A>G, XM_017016457.2:c.953A>G, XM_017016457.1:c.953A>G, XM_011539983.2:c.1091A>G, XM_011539983.1:c.1091A>G, XM_017016456.2:c.1091A>G, XM_017016456.1:c.1091A>G, XM_017016458.2:c.773A>G, XM_017016458.1:c.773A>G, XM_047425551.1:c.1091A>G, XM_047425553.1:c.1091A>G, XM_047425554.1:c.1091A>G, XM_047425552.1:c.1091A>G, XM_047425555.1:c.953A>G, XP_006717993.1:p.His364Arg, NP_065850.1:p.His364Arg, XP_011538287.1:p.His364Arg, XP_016871946.1:p.His318Arg, XP_011538285.1:p.His364Arg, XP_016871945.1:p.His364Arg, XP_016871947.1:p.His258Arg, XP_047281507.1:p.His364Arg, XP_047281509.1:p.His364Arg, XP_047281510.1:p.His364Arg, XP_047281508.1:p.His364Arg, XP_047281511.1:p.His318Arg

                                          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...