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Links from Protein

Items: 1 to 20 of 297

4.
9.

rs1467855172 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:180264821 (GRCh38)
    5:179691821 (GRCh37)
    Canonical SPDI:
    NC_000005.10:180264820:C:T
    Gene:
    MAPK9 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000005.10:g.180264821C>T, NC_000005.9:g.179691821C>T, NG_029059.1:g.32251G>A, NM_002752.5:c.271G>A, NM_002752.4:c.271G>A, NM_139070.3:c.271G>A, NM_139070.2:c.271G>A, NM_139069.3:c.271G>A, NM_139069.2:c.271G>A, NM_139068.3:c.271G>A, NM_139068.2:c.271G>A, NM_001364611.2:c.193G>A, NM_001364611.1:c.193G>A, NM_001364612.2:c.193G>A, NM_001364612.1:c.193G>A, NM_001364613.2:c.193G>A, NM_001364613.1:c.193G>A, NM_001364609.2:c.271G>A, NM_001364609.1:c.271G>A, NM_001364608.2:c.271G>A, NM_001364608.1:c.271G>A, NM_001364607.2:c.271G>A, NM_001364607.1:c.271G>A, NM_001364610.2:c.271G>A, NM_001364610.1:c.271G>A, NM_001135044.2:c.271G>A, NM_001135044.1:c.271G>A, NM_001308244.1:c.271G>A, XM_017009643.2:c.271G>A, XM_017009643.1:c.271G>A, XM_047417387.1:c.187G>A, NP_002743.3:p.Val91Met, NP_620709.1:p.Val91Met, NP_620708.1:p.Val91Met, NP_620707.1:p.Val91Met, NP_001351540.1:p.Val65Met, NP_001351541.1:p.Val65Met, NP_001351542.1:p.Val65Met, NP_001351538.1:p.Val91Met, NP_001351537.1:p.Val91Met, NP_001351536.1:p.Val91Met, NP_001351539.1:p.Val91Met, NP_001128516.1:p.Val91Met, NP_001295173.1:p.Val91Met, XP_016865132.1:p.Val91Met, XP_047273343.1:p.Val63Met
    13.

    rs1454933831 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      5:180241133 (GRCh38)
      5:179668133 (GRCh37)
      Canonical SPDI:
      NC_000005.10:180241132:T:A,NC_000005.10:180241132:T:C
      Gene:
      MAPK9 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000005.10:g.180241133T>A, NC_000005.10:g.180241133T>C, NC_000005.9:g.179668133T>A, NC_000005.9:g.179668133T>C, NG_029059.1:g.55939A>T, NG_029059.1:g.55939A>G, NM_002752.5:c.894A>T, NM_002752.5:c.894A>G, NM_002752.4:c.894A>T, NM_002752.4:c.894A>G, NM_139070.3:c.894A>T, NM_139070.3:c.894A>G, NM_139070.2:c.894A>T, NM_139070.2:c.894A>G, NM_139069.3:c.894A>T, NM_139069.3:c.894A>G, NM_139069.2:c.894A>T, NM_139069.2:c.894A>G, NM_139068.3:c.894A>T, NM_139068.3:c.894A>G, NM_139068.2:c.894A>T, NM_139068.2:c.894A>G, NM_001364611.2:c.816A>T, NM_001364611.2:c.816A>G, NM_001364611.1:c.816A>T, NM_001364611.1:c.816A>G, NM_001364612.2:c.816A>T, NM_001364612.2:c.816A>G, NM_001364612.1:c.816A>T, NM_001364612.1:c.816A>G, NM_001364613.2:c.816A>T, NM_001364613.2:c.816A>G, NM_001364613.1:c.816A>T, NM_001364613.1:c.816A>G, NM_001364609.2:c.894A>T, NM_001364609.2:c.894A>G, NM_001364609.1:c.894A>T, NM_001364609.1:c.894A>G, NM_001364608.2:c.894A>T, NM_001364608.2:c.894A>G, NM_001364608.1:c.894A>T, NM_001364608.1:c.894A>G, NM_001364607.2:c.894A>T, NM_001364607.2:c.894A>G, NM_001364607.1:c.894A>T, NM_001364607.1:c.894A>G, XM_047417387.1:c.810A>T, XM_047417387.1:c.810A>G, NP_002743.3:p.Leu298Phe, NP_620709.1:p.Leu298Phe, NP_620708.1:p.Leu298Phe, NP_620707.1:p.Leu298Phe, NP_001351540.1:p.Leu272Phe, NP_001351541.1:p.Leu272Phe, NP_001351542.1:p.Leu272Phe, NP_001351538.1:p.Leu298Phe, NP_001351537.1:p.Leu298Phe, NP_001351536.1:p.Leu298Phe, XP_047273343.1:p.Leu270Phe

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