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Links from Protein

Items: 1 to 20 of 485

5.

rs1480658051 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:28611795 (GRCh38)
    10:28900724 (GRCh37)
    Canonical SPDI:
    NC_000010.11:28611794:C:T
    Gene:
    WAC (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_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:
    NC_000010.11:g.28611795C>T, NC_000010.10:g.28900724C>T, NG_046603.1:g.84208C>T, NM_016628.5:c.1310C>T, NM_016628.4:c.1310C>T, NM_100486.4:c.1001C>T, NM_100486.3:c.1001C>T, NM_100264.3:c.1175C>T, NM_100264.2:c.1175C>T, NM_100264.1:c.1175C>T, NR_024557.2:n.1784C>T, XM_047425310.1:c.1448C>T, XM_047425311.1:c.1448C>T, XM_047425316.1:c.1175C>T, XM_047425309.1:c.1556C>T, XM_047425312.1:c.1328C>T, XM_047425313.1:c.1310C>T, XM_047425320.1:c.1175C>T, XM_047425315.1:c.1175C>T, XM_047425318.1:c.1139C>T, XM_047425314.1:c.1247C>T, XM_047425321.1:c.1175C>T, XM_047425317.1:c.1175C>T, XM_047425319.1:c.1001C>T, XR_007061967.1:n.2147C>T, NP_057712.2:p.Pro437Leu, NP_567823.1:p.Pro334Leu, NP_567822.1:p.Pro392Leu, XP_047281266.1:p.Pro483Leu, XP_047281267.1:p.Pro483Leu, XP_047281272.1:p.Pro392Leu, XP_047281265.1:p.Pro519Leu, XP_047281268.1:p.Pro443Leu, XP_047281269.1:p.Pro437Leu, XP_047281276.1:p.Pro392Leu, XP_047281271.1:p.Pro392Leu, XP_047281274.1:p.Pro380Leu, XP_047281270.1:p.Pro416Leu, XP_047281277.1:p.Pro392Leu, XP_047281273.1:p.Pro392Leu, XP_047281275.1:p.Pro334Leu
    6.

    rs1477297215 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      10:28535626 (GRCh38)
      10:28824555 (GRCh37)
      Canonical SPDI:
      NC_000010.11:28535625:A:C,NC_000010.11:28535625:A:G
      Gene:
      WAC (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      G=0.000177/3 (TOMMO)
      HGVS:
      NC_000010.11:g.28535626A>C, NC_000010.11:g.28535626A>G, NC_000010.10:g.28824555A>C, NC_000010.10:g.28824555A>G, NG_046603.1:g.8039A>C, NG_046603.1:g.8039A>G, NM_016628.5:c.143A>C, NM_016628.5:c.143A>G, NM_016628.4:c.143A>C, NM_016628.4:c.143A>G, NM_100486.4:c.143A>C, NM_100486.4:c.143A>G, NM_100486.3:c.143A>C, NM_100486.3:c.143A>G, NM_100264.3:c.8A>C, NM_100264.3:c.8A>G, NM_100264.2:c.8A>C, NM_100264.2:c.8A>G, NM_100264.1:c.8A>C, NM_100264.1:c.8A>G, NR_024557.2:n.617A>C, NR_024557.2:n.617A>G, XM_047425310.1:c.281A>C, XM_047425310.1:c.281A>G, XM_047425311.1:c.281A>C, XM_047425311.1:c.281A>G, XM_047425316.1:c.8A>C, XM_047425316.1:c.8A>G, XM_047425309.1:c.389A>C, XM_047425309.1:c.389A>G, XM_047425312.1:c.161A>C, XM_047425312.1:c.161A>G, XM_047425313.1:c.143A>C, XM_047425313.1:c.143A>G, XM_047425320.1:c.8A>C, XM_047425320.1:c.8A>G, XM_047425315.1:c.8A>C, XM_047425315.1:c.8A>G, XM_047425318.1:c.281A>C, XM_047425318.1:c.281A>G, XM_047425314.1:c.389A>C, XM_047425314.1:c.389A>G, XM_047425321.1:c.8A>C, XM_047425321.1:c.8A>G, XM_047425317.1:c.8A>C, XM_047425317.1:c.8A>G, XM_047425319.1:c.143A>C, XM_047425319.1:c.143A>G, XR_007061967.1:n.753A>C, XR_007061967.1:n.753A>G, XM_047425322.1:c.281A>C, XM_047425322.1:c.281A>G, NM_018604.1:c.16A>C, NM_018604.1:c.16A>G, NP_057712.2:p.Asp48Ala, NP_057712.2:p.Asp48Gly, NP_567823.1:p.Asp48Ala, NP_567823.1:p.Asp48Gly, NP_567822.1:p.Asp3Ala, NP_567822.1:p.Asp3Gly, XP_047281266.1:p.Asp94Ala, XP_047281266.1:p.Asp94Gly, XP_047281267.1:p.Asp94Ala, XP_047281267.1:p.Asp94Gly, XP_047281272.1:p.Asp3Ala, XP_047281272.1:p.Asp3Gly, XP_047281265.1:p.Asp130Ala, XP_047281265.1:p.Asp130Gly, XP_047281268.1:p.Asp54Ala, XP_047281268.1:p.Asp54Gly, XP_047281269.1:p.Asp48Ala, XP_047281269.1:p.Asp48Gly, XP_047281276.1:p.Asp3Ala, XP_047281276.1:p.Asp3Gly, XP_047281271.1:p.Asp3Ala, XP_047281271.1:p.Asp3Gly, XP_047281274.1:p.Asp94Ala, XP_047281274.1:p.Asp94Gly, XP_047281270.1:p.Asp130Ala, XP_047281270.1:p.Asp130Gly, XP_047281277.1:p.Asp3Ala, XP_047281277.1:p.Asp3Gly, XP_047281273.1:p.Asp3Ala, XP_047281273.1:p.Asp3Gly, XP_047281275.1:p.Asp48Ala, XP_047281275.1:p.Asp48Gly, XP_047281278.1:p.Asp94Ala, XP_047281278.1:p.Asp94Gly
      10.
      18.

      rs1461767295 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:28610709 (GRCh38)
        10:28899638 (GRCh37)
        Canonical SPDI:
        NC_000010.11:28610708:A:G
        Gene:
        WAC (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (GnomAD_exomes)
        G=0.000019/5 (TOPMED)
        G=0.000021/3 (GnomAD)
        HGVS:
        20.

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