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Links from Protein

Items: 1 to 20 of 315

1.

rs1486377138 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:129855839 (GRCh38)
    11:129725734 (GRCh37)
    Canonical SPDI:
    NC_000011.10:129855838:C:T
    Gene:
    TMEM45B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    T=0.000015/4 (TOPMED)
    ...more
    HGVS:
    4.

    rs1478281069 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:129854800 (GRCh38)
      11:129724695 (GRCh37)
      Canonical SPDI:
      NC_000011.10:129854799:G:A
      Gene:
      TMEM45B (Varview)
      Functional Consequence:
      coding_sequence_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)
      ...more
      HGVS:
      5.

      rs1477096972 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        11:129852590 (GRCh38)
        11:129722485 (GRCh37)
        Canonical SPDI:
        NC_000011.10:129852589:C:G,NC_000011.10:129852589:C:T
        Gene:
        TMEM45B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (GnomAD)
        T=0.000004/1 (GnomAD_exomes)
        ...more
        HGVS:
        10.

        rs1451480682 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          11:129858596 (GRCh38)
          11:129728491 (GRCh37)
          Canonical SPDI:
          NC_000011.10:129858595:C:A,NC_000011.10:129858595:C:T
          Gene:
          TMEM45B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.00011/1 (ALFA)
          T=0.00004/1 (TOMMO)
          HGVS:
          11.
          12.

          rs1443561138 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:129854698 (GRCh38)
            11:129724593 (GRCh37)
            Canonical SPDI:
            NC_000011.10:129854697:C:T
            Gene:
            TMEM45B (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            14.

            rs1438143172 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:129852614 (GRCh38)
              11:129722509 (GRCh37)
              Canonical SPDI:
              NC_000011.10:129852613:T:C
              Gene:
              TMEM45B (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              C=0.000064/17 (TOPMED)
              ...more
              HGVS:
              16.

              rs1427646601 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                11:129854777 (GRCh38)
                11:129724672 (GRCh37)
                Canonical SPDI:
                NC_000011.10:129854776:G:A,NC_000011.10:129854776:G:T
                Gene:
                TMEM45B (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                ...more
                HGVS:
                20.

                rs1421280950 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTGT>-,GT [Show Flanks]
                  Chromosome:
                  11:129855795 (GRCh38)
                  11:129725690 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:129855792:GTGTGT:GT,NC_000011.10:129855792:GTGTGT:GTGT
                  Gene:
                  TMEM45B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant,stop_gained
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GT=0.000447/2 (ALFA)
                  -=0.000004/1 (GnomAD_exomes)
                  -=0.000014/2 (GnomAD)
                  -=0.000446/2 (Estonian)
                  ...more
                  HGVS:
                  NC_000011.10:g.129855793GT[1], NC_000011.10:g.129855793GT[2], NC_000011.9:g.129725688GT[1], NC_000011.9:g.129725688GT[2], NM_138788.5:c.473_476del, NM_138788.5:c.475_476del, NM_138788.4:c.473_476del, NM_138788.4:c.475_476del, NM_138788.3:c.473_476del, NM_138788.3:c.475_476del, XM_017017188.2:c.473_476del, XM_017017188.2:c.475_476del, XM_017017188.1:c.473_476del, XM_017017188.1:c.475_476del, NM_001331210.2:c.473_476del, NM_001331210.2:c.475_476del, NM_001331210.1:c.473_476del, NM_001331210.1:c.475_476del, NM_001331212.2:c.473_476del, NM_001331212.2:c.475_476del, NM_001331212.1:c.473_476del, NM_001331212.1:c.475_476del, NM_001331211.2:c.473_476del, NM_001331211.2:c.475_476del, NM_001331211.1:c.473_476del, NM_001331211.1:c.475_476del, XM_047426356.1:c.473_476del, XM_047426356.1:c.475_476del, XM_047426354.1:c.473_476del, XM_047426354.1:c.475_476del, XM_047426358.1:c.473_476del, XM_047426358.1:c.475_476del, XM_047426355.1:c.473_476del, XM_047426355.1:c.475_476del, XM_047426357.1:c.473_476del, XM_047426357.1:c.475_476del, NP_620143.1:p.Cys158fs, NP_620143.1:p.Cys158_Val159insTer, XP_016872677.1:p.Cys158fs, XP_016872677.1:p.Cys158_Val159insTer, NP_001318139.1:p.Cys158fs, NP_001318139.1:p.Cys158_Val159insTer, NP_001318141.1:p.Cys158fs, NP_001318141.1:p.Cys158_Val159insTer, NP_001318140.1:p.Cys158fs, NP_001318140.1:p.Cys158_Val159insTer, XP_047282312.1:p.Cys158fs, XP_047282312.1:p.Cys158_Val159insTer, XP_047282310.1:p.Cys158fs, XP_047282310.1:p.Cys158_Val159insTer, XP_047282314.1:p.Cys158fs, XP_047282314.1:p.Cys158_Val159insTer, XP_047282311.1:p.Cys158fs, XP_047282311.1:p.Cys158_Val159insTer, XP_047282313.1:p.Cys158fs, XP_047282313.1:p.Cys158_Val159insTer
                  ...more

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