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Items: 1 to 20 of 138

1.

rs1478702615 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:36393964 (GRCh38)
    1:36859565 (GRCh37)
    Canonical SPDI:
    NC_000001.11:36393963:T:C
    Gene:
    LSM10 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1463544168 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      1:36393931 (GRCh38)
      1:36859532 (GRCh37)
      Canonical SPDI:
      NC_000001.11:36393930:C:A,NC_000001.11:36393930:C:T
      Gene:
      LSM10 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000054/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      T=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1463413035 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:36393904 (GRCh38)
        1:36859505 (GRCh37)
        Canonical SPDI:
        NC_000001.11:36393903:C:T
        Gene:
        LSM10 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1445791132 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:36393991 (GRCh38)
          1:36859592 (GRCh37)
          Canonical SPDI:
          NC_000001.11:36393990:C:T
          Gene:
          LSM10 (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)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1445479549 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            1:36393921 (GRCh38)
            1:36859522 (GRCh37)
            Canonical SPDI:
            NC_000001.11:36393920:T:C,NC_000001.11:36393920:T:G
            Gene:
            LSM10 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000031/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1439612586 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:36393957 (GRCh38)
              1:36859558 (GRCh37)
              Canonical SPDI:
              NC_000001.11:36393956:G:A
              Gene:
              LSM10 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1434996993 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                1:36393788 (GRCh38)
                1:36859389 (GRCh37)
                Canonical SPDI:
                NC_000001.11:36393787:C:A,NC_000001.11:36393787:C:T
                Gene:
                LSM10 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1430864685 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:36393933 (GRCh38)
                  1:36859534 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:36393932:T:C
                  Gene:
                  LSM10 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1424877884 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:36394001 (GRCh38)
                    1:36859602 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:36394000:T:C
                    Gene:
                    LSM10 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1413607810 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      1:36393834 (GRCh38)
                      1:36859435 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:36393833:T:
                      Gene:
                      LSM10 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1412441982 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:36393983 (GRCh38)
                        1:36859584 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:36393982:G:C
                        Gene:
                        LSM10 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1405139703 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:36394039 (GRCh38)
                          1:36859640 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:36394038:C:T
                          Gene:
                          LSM10 (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=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1400837591 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            1:36393987 (GRCh38)
                            1:36859588 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:36393986:G:A,NC_000001.11:36393986:G:T
                            Gene:
                            LSM10 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000008/2 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1377554534 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              1:36393763 (GRCh38)
                              1:36859365 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:36393763:A:AA
                              Gene:
                              LSM10 (Varview)
                              Functional Consequence:
                              stop_gained,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AA=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1376640713 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:36394031 (GRCh38)
                                1:36859632 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:36394030:C:G
                                Gene:
                                LSM10 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1373136088 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:36393996 (GRCh38)
                                  1:36859597 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:36393995:T:C
                                  Gene:
                                  LSM10 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1368033465 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:36394070 (GRCh38)
                                    1:36859671 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:36394069:T:C
                                    Gene:
                                    LSM10 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000224/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1367183224 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:36394030 (GRCh38)
                                      1:36859631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:36394029:G:A
                                      Gene:
                                      LSM10 (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=0.000425/7 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1358143620 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:36393911 (GRCh38)
                                        1:36859512 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:36393910:A:G
                                        Gene:
                                        LSM10 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1350066269 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          1:36393943 (GRCh38)
                                          1:36859544 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:36393942:A:T
                                          Gene:
                                          LSM10 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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