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Links from Protein

Items: 1 to 20 of 260

1.

rs1489817785 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    7:43803828 (GRCh38)
    7:43843427 (GRCh37)
    Canonical SPDI:
    NC_000007.14:43803827:C:T
    Gene:
    BLVRA (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.

    rs1483004399 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:43800568 (GRCh38)
      7:43840167 (GRCh37)
      Canonical SPDI:
      NC_000007.14:43800567:C:T
      Gene:
      BLVRA (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_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.
      6.

      rs1470976154 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        7:43807160 (GRCh38)
        7:43846759 (GRCh37)
        Canonical SPDI:
        NC_000007.14:43807159:T:C
        Gene:
        BLVRA (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        8.

        rs1454799627 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          7:43807034 (GRCh38)
          7:43846633 (GRCh37)
          Canonical SPDI:
          NC_000007.14:43807033:C:T
          Gene:
          BLVRA (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000015/4 (TOPMED)
          T=0.000021/3 (GnomAD)
          HGVS:
          13.

          rs1425746500 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            7:43791269 (GRCh38)
            7:43830868 (GRCh37)
            Canonical SPDI:
            NC_000007.14:43791268:A:G
            Gene:
            BLVRA (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000028/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            15.

            rs1423202534 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:43791264 (GRCh38)
              7:43830863 (GRCh37)
              Canonical SPDI:
              NC_000007.14:43791263:C:T
              Gene:
              BLVRA (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              19.

              rs1399717472 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:43792772 (GRCh38)
                7:43832371 (GRCh37)
                Canonical SPDI:
                NC_000007.14:43792771:G:A
                Gene:
                BLVRA (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:

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