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Links from Protein

Items: 1 to 20 of 270

7.

rs1481005282 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    6:33069224 (GRCh38)
    6:33037001 (GRCh37)
    Canonical SPDI:
    NC_000006.12:33069223:G:A,NC_000006.12:33069223:G:T
    Gene:
    HLA-DPA1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000006.12:g.33069224G>A, NC_000006.12:g.33069224G>T, NC_000006.11:g.33037001G>A, NC_000006.11:g.33037001G>T, NG_033241.1:g.16555C>T, NG_033241.1:g.16555C>A, NM_033554.4:c.423C>T, NM_033554.4:c.423C>A, NM_033554.3:c.423C>T, NM_033554.3:c.423C>A, NM_001242524.2:c.423C>T, NM_001242524.2:c.423C>A, NM_001242524.1:c.423C>T, NM_001242524.1:c.423C>A, NM_001242525.2:c.423C>T, NM_001242525.2:c.423C>A, NM_001242525.1:c.423C>T, NM_001242525.1:c.423C>A, NM_001405020.1:c.423C>T, NM_001405020.1:c.423C>A, NT_113891.3:g.4481075G>A, NT_113891.3:g.4481075G>T, NT_113891.2:g.4481181G>A, NT_113891.2:g.4481181G>T, NT_167249.2:g.4518207G>A, NT_167249.2:g.4518207G>T, NT_167249.1:g.4517505G>A, NT_167249.1:g.4517505G>T, NT_167246.2:g.4488921G>A, NT_167246.2:g.4488921G>T, NT_167246.1:g.4494541G>A, NT_167246.1:g.4494541G>T, NT_167248.2:g.4263856G>A, NT_167248.2:g.4263856G>T, NT_167248.1:g.4269452G>A, NT_167248.1:g.4269452G>T, NT_167245.2:g.4312755G>A, NT_167245.2:g.4312755G>T, NT_167245.1:g.4318340G>A, NT_167245.1:g.4318340G>T, NT_167247.2:g.4368289G>A, NT_167247.2:g.4368289G>T, NT_167247.1:g.4373874G>A, NT_167247.1:g.4373874G>T, NT_167244.2:g.4373904G>A, NT_167244.2:g.4373904G>T, NT_167244.1:g.4323820G>A, NT_167244.1:g.4323820G>T, XM_047418717.1:c.423C>T, XM_047418717.1:c.423C>A, NP_291032.2:p.Asp141Glu, NP_001229453.1:p.Asp141Glu, NP_001229454.1:p.Asp141Glu, XP_047274673.1:p.Asp141Glu
    14.

    rs1437443220 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      6:33073523 (GRCh38)
      6:33041300 (GRCh37)
      Canonical SPDI:
      NC_000006.12:33073522:T:A,NC_000006.12:33073522:T:C
      Gene:
      HLA-DPA1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.0002/1 (ALFA)
      A=0.0002/1 (Estonian)
      HGVS:
      NC_000006.12:g.33073523T>A, NC_000006.12:g.33073523T>C, NC_000006.11:g.33041300T>A, NC_000006.11:g.33041300T>C, NG_033241.1:g.12256A>T, NG_033241.1:g.12256A>G, NM_033554.4:c.48A>T, NM_033554.4:c.48A>G, NM_033554.3:c.48A>T, NM_033554.3:c.48A>G, NM_001242524.2:c.48A>T, NM_001242524.2:c.48A>G, NM_001242524.1:c.48A>T, NM_001242524.1:c.48A>G, NM_001242525.2:c.48A>T, NM_001242525.2:c.48A>G, NM_001242525.1:c.48A>T, NM_001242525.1:c.48A>G, NM_001405020.1:c.48A>T, NM_001405020.1:c.48A>G, NG_033242.1:g.2598T>A, NG_033242.1:g.2598T>C, NT_113891.3:g.4485374T>A, NT_113891.3:g.4485374T>C, NT_113891.2:g.4485480T>A, NT_113891.2:g.4485480T>C, NT_167249.2:g.4522506T>A, NT_167249.2:g.4522506T>C, NT_167249.1:g.4521804T>A, NT_167249.1:g.4521804T>C, NT_167246.2:g.4493220T>A, NT_167246.2:g.4493220T>C, NT_167246.1:g.4498840T>A, NT_167246.1:g.4498840T>C, NT_167248.2:g.4268155T>A, NT_167248.2:g.4268155T>C, NT_167248.1:g.4273751T>A, NT_167248.1:g.4273751T>C, NT_167245.2:g.4317054T>A, NT_167245.2:g.4317054T>C, NT_167245.1:g.4322639T>A, NT_167245.1:g.4322639T>C, NT_167247.2:g.4372570T>A, NT_167247.2:g.4372570T>C, NT_167247.1:g.4378155T>A, NT_167247.1:g.4378155T>C, NT_167244.2:g.4378185T>A, NT_167244.2:g.4378185T>C, NT_167244.1:g.4328101T>A, NT_167244.1:g.4328101T>C, XM_047418717.1:c.48A>T, XM_047418717.1:c.48A>G, NP_291032.2:p.Arg16Ser, NP_001229453.1:p.Arg16Ser, NP_001229454.1:p.Arg16Ser, XP_047274673.1:p.Arg16Ser
      20.

      rs1387245703 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        6:33069706 (GRCh38)
        6:33037483 (GRCh37)
        Canonical SPDI:
        NC_000006.12:33069705:A:G,NC_000006.12:33069705:A:T
        Gene:
        HLA-DPA1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000008/2 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000006.12:g.33069706A>G, NC_000006.12:g.33069706A>T, NC_000006.11:g.33037483A>G, NC_000006.11:g.33037483A>T, NG_033241.1:g.16073T>C, NG_033241.1:g.16073T>A, NM_033554.4:c.281T>C, NM_033554.4:c.281T>A, NM_033554.3:c.281T>C, NM_033554.3:c.281T>A, NM_001242524.2:c.281T>C, NM_001242524.2:c.281T>A, NM_001242524.1:c.281T>C, NM_001242524.1:c.281T>A, NM_001242525.2:c.281T>C, NM_001242525.2:c.281T>A, NM_001242525.1:c.281T>C, NM_001242525.1:c.281T>A, NM_001405020.1:c.281T>C, NM_001405020.1:c.281T>A, NT_113891.3:g.4481557A>G, NT_113891.3:g.4481557A>T, NT_113891.2:g.4481663A>G, NT_113891.2:g.4481663A>T, NT_167249.2:g.4518689A>G, NT_167249.2:g.4518689A>T, NT_167249.1:g.4517987A>G, NT_167249.1:g.4517987A>T, NT_167246.2:g.4489403A>G, NT_167246.2:g.4489403A>T, NT_167246.1:g.4495023A>G, NT_167246.1:g.4495023A>T, NT_167248.2:g.4264338A>G, NT_167248.2:g.4264338A>T, NT_167248.1:g.4269934A>G, NT_167248.1:g.4269934A>T, NT_167245.2:g.4313237A>G, NT_167245.2:g.4313237A>T, NT_167245.1:g.4318822A>G, NT_167245.1:g.4318822A>T, NT_167247.2:g.4368771A>G, NT_167247.2:g.4368771A>T, NT_167247.1:g.4374356A>G, NT_167247.1:g.4374356A>T, NT_167244.2:g.4374386A>G, NT_167244.2:g.4374386A>T, NT_167244.1:g.4324302A>G, NT_167244.1:g.4324302A>T, XM_047418717.1:c.281T>C, XM_047418717.1:c.281T>A, NP_291032.2:p.Ile94Thr, NP_291032.2:p.Ile94Asn, NP_001229453.1:p.Ile94Thr, NP_001229453.1:p.Ile94Asn, NP_001229454.1:p.Ile94Thr, NP_001229454.1:p.Ile94Asn, XP_047274673.1:p.Ile94Thr, XP_047274673.1:p.Ile94Asn

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