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 349

2.

rs1489480873 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    1:47220150 (GRCh38)
    1:47685822 (GRCh37)
    Canonical SPDI:
    NC_000001.11:47220149:C:A,NC_000001.11:47220149:C:G
    Gene:
    TAL1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.47220150C>A, NC_000001.11:g.47220150C>G, NC_000001.10:g.47685822C>A, NC_000001.10:g.47685822C>G, NM_003189.5:c.566G>T, NM_003189.5:c.566G>C, NM_003189.4:c.566G>T, NM_003189.4:c.566G>C, NM_003189.3:c.566G>T, NM_003189.3:c.566G>C, NM_003189.2:c.566G>T, NM_003189.2:c.566G>C, NM_001287347.2:c.566G>T, NM_001287347.2:c.566G>C, NM_001287347.1:c.566G>T, NM_001287347.1:c.566G>C, NM_001290403.2:c.566G>T, NM_001290403.2:c.566G>C, NM_001290403.1:c.566G>T, NM_001290403.1:c.566G>C, XM_017002191.2:c.566G>T, XM_017002191.2:c.566G>C, XM_017002191.1:c.566G>T, XM_017002191.1:c.566G>C, NM_001290406.2:c.89G>T, NM_001290406.2:c.89G>C, NM_001290406.1:c.89G>T, NM_001290406.1:c.89G>C, XM_047429045.1:c.743G>T, XM_047429045.1:c.743G>C, NM_001290404.1:c.566G>T, NM_001290404.1:c.566G>C, XM_047429046.1:c.743G>T, XM_047429046.1:c.743G>C, NM_001290405.1:c.566G>T, NM_001290405.1:c.566G>C, XM_047429047.1:c.89G>T, XM_047429047.1:c.89G>C, NP_003180.1:p.Arg189Leu, NP_003180.1:p.Arg189Pro, NP_001274276.1:p.Arg189Leu, NP_001274276.1:p.Arg189Pro, NP_001277332.1:p.Arg189Leu, NP_001277332.1:p.Arg189Pro, XP_016857680.1:p.Arg189Leu, XP_016857680.1:p.Arg189Pro, NP_001277335.1:p.Arg30Leu, NP_001277335.1:p.Arg30Pro, XP_047285001.1:p.Arg248Leu, XP_047285001.1:p.Arg248Pro, NP_001277333.1:p.Arg189Leu, NP_001277333.1:p.Arg189Pro, XP_047285002.1:p.Arg248Leu, XP_047285002.1:p.Arg248Pro, NP_001277334.1:p.Arg189Leu, NP_001277334.1:p.Arg189Pro, XP_047285003.1:p.Arg30Leu, XP_047285003.1:p.Arg30Pro
    4.

    rs1481023152 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:47225836 (GRCh38)
      1:47691508 (GRCh37)
      Canonical SPDI:
      NC_000001.11:47225835:C:G,NC_000001.11:47225835:C:T
      Gene:
      TAL1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000001.11:g.47225836C>G, NC_000001.11:g.47225836C>T, NC_000001.10:g.47691508C>G, NC_000001.10:g.47691508C>T, NM_003189.5:c.53G>C, NM_003189.5:c.53G>A, NM_003189.4:c.53G>C, NM_003189.4:c.53G>A, NM_003189.3:c.53G>C, NM_003189.3:c.53G>A, NM_003189.2:c.53G>C, NM_003189.2:c.53G>A, NM_001287347.2:c.53G>C, NM_001287347.2:c.53G>A, NM_001287347.1:c.53G>C, NM_001287347.1:c.53G>A, NM_001290403.2:c.53G>C, NM_001290403.2:c.53G>A, NM_001290403.1:c.53G>C, NM_001290403.1:c.53G>A, XM_017002191.2:c.53G>C, XM_017002191.2:c.53G>A, XM_017002191.1:c.53G>C, XM_017002191.1:c.53G>A, XM_047429045.1:c.53G>C, XM_047429045.1:c.53G>A, NM_001290404.1:c.53G>C, NM_001290404.1:c.53G>A, XM_047429046.1:c.53G>C, XM_047429046.1:c.53G>A, NM_001290405.1:c.53G>C, NM_001290405.1:c.53G>A, NP_003180.1:p.Gly18Ala, NP_003180.1:p.Gly18Glu, NP_001274276.1:p.Gly18Ala, NP_001274276.1:p.Gly18Glu, NP_001277332.1:p.Gly18Ala, NP_001277332.1:p.Gly18Glu, XP_016857680.1:p.Gly18Ala, XP_016857680.1:p.Gly18Glu, XP_047285001.1:p.Gly18Ala, XP_047285001.1:p.Gly18Glu, NP_001277333.1:p.Gly18Ala, NP_001277333.1:p.Gly18Glu, XP_047285002.1:p.Gly18Ala, XP_047285002.1:p.Gly18Glu, NP_001277334.1:p.Gly18Ala, NP_001277334.1:p.Gly18Glu
      7.

      rs1479009648 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        1:47225587 (GRCh38)
        1:47691259 (GRCh37)
        Canonical SPDI:
        NC_000001.11:47225586:G:A,NC_000001.11:47225586:G:C
        Gene:
        TAL1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000019/5 (TOPMED)
        A=0.000021/3 (GnomAD)
        A=0.000035/1 (TOMMO)
        HGVS:
        NC_000001.11:g.47225587G>A, NC_000001.11:g.47225587G>C, NC_000001.10:g.47691259G>A, NC_000001.10:g.47691259G>C, NM_003189.5:c.302C>T, NM_003189.5:c.302C>G, NM_003189.4:c.302C>T, NM_003189.4:c.302C>G, NM_003189.3:c.302C>T, NM_003189.3:c.302C>G, NM_003189.2:c.302C>T, NM_003189.2:c.302C>G, NM_001287347.2:c.302C>T, NM_001287347.2:c.302C>G, NM_001287347.1:c.302C>T, NM_001287347.1:c.302C>G, NM_001290403.2:c.302C>T, NM_001290403.2:c.302C>G, NM_001290403.1:c.302C>T, NM_001290403.1:c.302C>G, XM_017002191.2:c.302C>T, XM_017002191.2:c.302C>G, XM_017002191.1:c.302C>T, XM_017002191.1:c.302C>G, XM_047429045.1:c.302C>T, XM_047429045.1:c.302C>G, NM_001290404.1:c.302C>T, NM_001290404.1:c.302C>G, XM_047429046.1:c.302C>T, XM_047429046.1:c.302C>G, NM_001290405.1:c.302C>T, NM_001290405.1:c.302C>G, NP_003180.1:p.Pro101Leu, NP_003180.1:p.Pro101Arg, NP_001274276.1:p.Pro101Leu, NP_001274276.1:p.Pro101Arg, NP_001277332.1:p.Pro101Leu, NP_001277332.1:p.Pro101Arg, XP_016857680.1:p.Pro101Leu, XP_016857680.1:p.Pro101Arg, XP_047285001.1:p.Pro101Leu, XP_047285001.1:p.Pro101Arg, NP_001277333.1:p.Pro101Leu, NP_001277333.1:p.Pro101Arg, XP_047285002.1:p.Pro101Leu, XP_047285002.1:p.Pro101Arg, NP_001277334.1:p.Pro101Leu, NP_001277334.1:p.Pro101Arg
        13.

        rs1468225478 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          1:47219829 (GRCh38)
          1:47685501 (GRCh37)
          Canonical SPDI:
          NC_000001.11:47219828:T:A,NC_000001.11:47219828:T:C
          Gene:
          TAL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.47219829T>A, NC_000001.11:g.47219829T>C, NC_000001.10:g.47685501T>A, NC_000001.10:g.47685501T>C, NM_003189.5:c.887A>T, NM_003189.5:c.887A>G, NM_003189.4:c.887A>T, NM_003189.4:c.887A>G, NM_003189.3:c.887A>T, NM_003189.3:c.887A>G, NM_003189.2:c.887A>T, NM_003189.2:c.887A>G, NM_001287347.2:c.887A>T, NM_001287347.2:c.887A>G, NM_001287347.1:c.887A>T, NM_001287347.1:c.887A>G, NM_001290403.2:c.887A>T, NM_001290403.2:c.887A>G, NM_001290403.1:c.887A>T, NM_001290403.1:c.887A>G, XM_017002191.2:c.887A>T, XM_017002191.2:c.887A>G, XM_017002191.1:c.887A>T, XM_017002191.1:c.887A>G, NM_001290406.2:c.410A>T, NM_001290406.2:c.410A>G, NM_001290406.1:c.410A>T, NM_001290406.1:c.410A>G, XM_047429045.1:c.1064A>T, XM_047429045.1:c.1064A>G, NM_001290404.1:c.887A>T, NM_001290404.1:c.887A>G, XM_047429046.1:c.1064A>T, XM_047429046.1:c.1064A>G, NM_001290405.1:c.887A>T, NM_001290405.1:c.887A>G, XM_047429047.1:c.410A>T, XM_047429047.1:c.410A>G, NP_003180.1:p.Asp296Val, NP_003180.1:p.Asp296Gly, NP_001274276.1:p.Asp296Val, NP_001274276.1:p.Asp296Gly, NP_001277332.1:p.Asp296Val, NP_001277332.1:p.Asp296Gly, XP_016857680.1:p.Asp296Val, XP_016857680.1:p.Asp296Gly, NP_001277335.1:p.Asp137Val, NP_001277335.1:p.Asp137Gly, XP_047285001.1:p.Asp355Val, XP_047285001.1:p.Asp355Gly, NP_001277333.1:p.Asp296Val, NP_001277333.1:p.Asp296Gly, XP_047285002.1:p.Asp355Val, XP_047285002.1:p.Asp355Gly, NP_001277334.1:p.Asp296Val, NP_001277334.1:p.Asp296Gly, XP_047285003.1:p.Asp137Val, XP_047285003.1:p.Asp137Gly
          14.

          rs1464377428 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:47225695 (GRCh38)
            1:47691367 (GRCh37)
            Canonical SPDI:
            NC_000001.11:47225694:G:A,NC_000001.11:47225694:G:T
            Gene:
            TAL1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000001.11:g.47225695G>A, NC_000001.11:g.47225695G>T, NC_000001.10:g.47691367G>A, NC_000001.10:g.47691367G>T, NM_003189.5:c.194C>T, NM_003189.5:c.194C>A, NM_003189.4:c.194C>T, NM_003189.4:c.194C>A, NM_003189.3:c.194C>T, NM_003189.3:c.194C>A, NM_003189.2:c.194C>T, NM_003189.2:c.194C>A, NM_001287347.2:c.194C>T, NM_001287347.2:c.194C>A, NM_001287347.1:c.194C>T, NM_001287347.1:c.194C>A, NM_001290403.2:c.194C>T, NM_001290403.2:c.194C>A, NM_001290403.1:c.194C>T, NM_001290403.1:c.194C>A, XM_017002191.2:c.194C>T, XM_017002191.2:c.194C>A, XM_017002191.1:c.194C>T, XM_017002191.1:c.194C>A, XM_047429045.1:c.194C>T, XM_047429045.1:c.194C>A, NM_001290404.1:c.194C>T, NM_001290404.1:c.194C>A, XM_047429046.1:c.194C>T, XM_047429046.1:c.194C>A, NM_001290405.1:c.194C>T, NM_001290405.1:c.194C>A, NP_003180.1:p.Ala65Val, NP_003180.1:p.Ala65Asp, NP_001274276.1:p.Ala65Val, NP_001274276.1:p.Ala65Asp, NP_001277332.1:p.Ala65Val, NP_001277332.1:p.Ala65Asp, XP_016857680.1:p.Ala65Val, XP_016857680.1:p.Ala65Asp, XP_047285001.1:p.Ala65Val, XP_047285001.1:p.Ala65Asp, NP_001277333.1:p.Ala65Val, NP_001277333.1:p.Ala65Asp, XP_047285002.1:p.Ala65Val, XP_047285002.1:p.Ala65Asp, NP_001277334.1:p.Ala65Val, NP_001277334.1:p.Ala65Asp
            17.

            Display Settings:

            Format
            Items per page
            Sort by

            Send to:

            Choose Destination

            Supplemental Content

            Find related data

            Recent activity

            Your browsing activity is empty.

            Activity recording is turned off.

            Turn recording back on

            See more...