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Links from Protein

Items: 1 to 20 of 534

4.
6.

rs1478075893 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    6:30154392 (GRCh38)
    6:30122169 (GRCh37)
    Canonical SPDI:
    NC_000006.12:30154391:T:C,NC_000006.12:30154391:T:G
    Gene:
    TRIM10 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    HGVS:
    NC_000006.12:g.30154392T>C, NC_000006.12:g.30154392T>G, NC_000006.11:g.30122169T>C, NC_000006.11:g.30122169T>G, NT_113891.3:g.1634200T>C, NT_113891.3:g.1634200T>G, NT_113891.2:g.1634306T>C, NT_113891.2:g.1634306T>G, NT_167248.2:g.1409521T>C, NT_167248.2:g.1409521T>G, NT_167248.1:g.1415117T>C, NT_167248.1:g.1415117T>G, NT_167245.2:g.1410309T>C, NT_167245.2:g.1410309T>G, NT_167245.1:g.1415894T>C, NT_167245.1:g.1415894T>G, NT_167249.2:g.1453320T>C, NT_167249.2:g.1453320T>G, NT_167249.1:g.1452618T>C, NT_167249.1:g.1452618T>G, NT_167246.2:g.1465114T>C, NT_167246.2:g.1465114T>G, NT_167246.1:g.1470734T>C, NT_167246.1:g.1470734T>G, NT_167247.2:g.1498470T>C, NT_167247.2:g.1498470T>G, NT_167247.1:g.1504055T>C, NT_167247.1:g.1504055T>G, NT_167244.2:g.1412488T>C, NT_167244.2:g.1412488T>G, NT_167244.1:g.1362404T>C, NT_167244.1:g.1362404T>G, NM_006778.4:c.1023A>G, NM_006778.4:c.1023A>C, NM_006778.3:c.1023A>G, NM_006778.3:c.1023A>C, NM_052828.3:c.1023A>G, NM_052828.3:c.1023A>C, NM_052828.2:c.1023A>G, NM_052828.2:c.1023A>C, XM_011514222.3:c.1077A>G, XM_011514222.3:c.1077A>C, XM_011514222.2:c.1077A>G, XM_011514222.2:c.1077A>C, XM_011514222.1:c.1077A>G, XM_011514222.1:c.1077A>C, XM_011514223.3:c.1077A>G, XM_011514223.3:c.1077A>C, XM_011514223.2:c.1077A>G, XM_011514223.2:c.1077A>C, XM_011514223.1:c.1077A>G, XM_011514223.1:c.1077A>C, XM_011514221.2:c.1077A>G, XM_011514221.2:c.1077A>C, XM_011514221.1:c.1077A>G, XM_011514221.1:c.1077A>C, XM_047418051.1:c.1077A>G, XM_047418051.1:c.1077A>C, XM_047418052.1:c.1077A>G, XM_047418052.1:c.1077A>C, XM_047418053.1:c.1077A>G, XM_047418053.1:c.1077A>C
    8.

    rs1477035102 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      6:30158561 (GRCh38)
      6:30126338 (GRCh37)
      Canonical SPDI:
      NC_000006.12:30158560:T:C,NC_000006.12:30158560:T:G
      Gene:
      TRIM10 (Varview)
      Functional Consequence:
      synonymous_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.30158561T>C, NC_000006.12:g.30158561T>G, NC_000006.11:g.30126338T>C, NC_000006.11:g.30126338T>G, NT_113891.3:g.1638367T>C, NT_113891.3:g.1638367T>G, NT_113891.2:g.1638473T>C, NT_113891.2:g.1638473T>G, NT_167248.2:g.1413689T>C, NT_167248.2:g.1413689T>G, NT_167248.1:g.1419285T>C, NT_167248.1:g.1419285T>G, NT_167245.2:g.1414477T>C, NT_167245.2:g.1414477T>G, NT_167245.1:g.1420062T>C, NT_167245.1:g.1420062T>G, NT_167249.2:g.1457488T>C, NT_167249.2:g.1457488T>G, NT_167249.1:g.1456786T>C, NT_167249.1:g.1456786T>G, NT_167246.2:g.1469282T>C, NT_167246.2:g.1469282T>G, NT_167246.1:g.1474902T>C, NT_167246.1:g.1474902T>G, NT_167247.2:g.1502638T>C, NT_167247.2:g.1502638T>G, NT_167247.1:g.1508223T>C, NT_167247.1:g.1508223T>G, NT_167244.2:g.1416656T>C, NT_167244.2:g.1416656T>G, NT_167244.1:g.1366572T>C, NT_167244.1:g.1366572T>G, NM_006778.4:c.594A>G, NM_006778.4:c.594A>C, NM_006778.3:c.594A>G, NM_006778.3:c.594A>C, NM_052828.3:c.594A>G, NM_052828.3:c.594A>C, NM_052828.2:c.594A>G, NM_052828.2:c.594A>C, XM_011514222.3:c.648A>G, XM_011514222.3:c.648A>C, XM_011514222.2:c.648A>G, XM_011514222.2:c.648A>C, XM_011514222.1:c.648A>G, XM_011514222.1:c.648A>C, XM_011514223.3:c.648A>G, XM_011514223.3:c.648A>C, XM_011514223.2:c.648A>G, XM_011514223.2:c.648A>C, XM_011514223.1:c.648A>G, XM_011514223.1:c.648A>C, XM_011514221.2:c.648A>G, XM_011514221.2:c.648A>C, XM_011514221.1:c.648A>G, XM_011514221.1:c.648A>C, XM_047418051.1:c.648A>G, XM_047418051.1:c.648A>C, XM_047418052.1:c.648A>G, XM_047418052.1:c.648A>C, XM_047418053.1:c.648A>G, XM_047418053.1:c.648A>C, NP_006769.2:p.Glu198Asp, NP_439893.2:p.Glu198Asp, XP_011512524.1:p.Glu216Asp, XP_011512525.1:p.Glu216Asp, XP_011512523.1:p.Glu216Asp, XP_047274007.1:p.Glu216Asp, XP_047274008.1:p.Glu216Asp, XP_047274009.1:p.Glu216Asp
      19.

      rs1459363289 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        6:30154270 (GRCh38)
        6:30122047 (GRCh37)
        Canonical SPDI:
        NC_000006.12:30154269:C:A,NC_000006.12:30154269:C:T
        Gene:
        TRIM10 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000006.12:g.30154270C>A, NC_000006.12:g.30154270C>T, NC_000006.11:g.30122047C>A, NC_000006.11:g.30122047C>T, NT_113891.3:g.1634078C>A, NT_113891.3:g.1634078C>T, NT_113891.2:g.1634184C>A, NT_113891.2:g.1634184C>T, NT_167248.2:g.1409399C>A, NT_167248.2:g.1409399C>T, NT_167248.1:g.1414995C>A, NT_167248.1:g.1414995C>T, NT_167245.2:g.1410187C>A, NT_167245.2:g.1410187C>T, NT_167245.1:g.1415772C>A, NT_167245.1:g.1415772C>T, NT_167249.2:g.1453198C>A, NT_167249.2:g.1453198C>T, NT_167249.1:g.1452496C>A, NT_167249.1:g.1452496C>T, NT_167246.2:g.1464992C>A, NT_167246.2:g.1464992C>T, NT_167246.1:g.1470612C>A, NT_167246.1:g.1470612C>T, NT_167247.2:g.1498348C>A, NT_167247.2:g.1498348C>T, NT_167247.1:g.1503933C>A, NT_167247.1:g.1503933C>T, NT_167244.2:g.1412366C>A, NT_167244.2:g.1412366C>T, NT_167244.1:g.1362282C>A, NT_167244.1:g.1362282C>T, NM_006778.4:c.1145G>T, NM_006778.4:c.1145G>A, NM_006778.3:c.1145G>T, NM_006778.3:c.1145G>A, XM_011514222.3:c.1199G>T, XM_011514222.3:c.1199G>A, XM_011514222.2:c.1199G>T, XM_011514222.2:c.1199G>A, XM_011514222.1:c.1199G>T, XM_011514222.1:c.1199G>A, XM_011514223.3:c.1199G>T, XM_011514223.3:c.1199G>A, XM_011514223.2:c.1199G>T, XM_011514223.2:c.1199G>A, XM_011514223.1:c.1199G>T, XM_011514223.1:c.1199G>A, XM_011514221.2:c.1199G>T, XM_011514221.2:c.1199G>A, XM_011514221.1:c.1199G>T, XM_011514221.1:c.1199G>A, XM_047418052.1:c.1199G>T, XM_047418052.1:c.1199G>A, XM_047418051.1:c.1199G>T, XM_047418051.1:c.1199G>A, NP_006769.2:p.Gly382Val, NP_006769.2:p.Gly382Asp, XP_011512524.1:p.Gly400Val, XP_011512524.1:p.Gly400Asp, XP_011512525.1:p.Gly400Val, XP_011512525.1:p.Gly400Asp, XP_011512523.1:p.Gly400Val, XP_011512523.1:p.Gly400Asp, XP_047274008.1:p.Gly400Val, XP_047274008.1:p.Gly400Asp, XP_047274007.1:p.Gly400Val, XP_047274007.1:p.Gly400Asp

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