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Links from Protein

Items: 1 to 20 of 349

7.

rs1481872020 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    19:51015984 (GRCh38)
    19:51519240 (GRCh37)
    Canonical SPDI:
    NC_000019.10:51015983:C:A,NC_000019.10:51015983:C:T
    Gene:
    KLK10 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000019.10:g.51015984C>A, NC_000019.10:g.51015984C>T, NC_000019.9:g.51519240C>A, NC_000019.9:g.51519240C>T, XM_006723287.5:c.442G>T, XM_006723287.5:c.442G>A, XM_006723287.4:c.442G>T, XM_006723287.4:c.442G>A, XM_006723287.3:c.442G>T, XM_006723287.3:c.442G>A, XM_006723287.2:c.442G>T, XM_006723287.2:c.442G>A, XM_006723287.1:c.442G>T, XM_006723287.1:c.442G>A, NM_002776.5:c.442G>T, NM_002776.5:c.442G>A, NM_002776.4:c.442G>T, NM_002776.4:c.442G>A, XM_005259061.4:c.442G>T, XM_005259061.4:c.442G>A, XM_005259061.3:c.442G>T, XM_005259061.3:c.442G>A, XM_005259061.2:c.442G>T, XM_005259061.2:c.442G>A, XM_005259061.1:c.442G>T, XM_005259061.1:c.442G>A, XM_005259062.4:c.442G>T, XM_005259062.4:c.442G>A, XM_005259062.3:c.442G>T, XM_005259062.3:c.442G>A, XM_005259062.2:c.442G>T, XM_005259062.2:c.442G>A, XM_005259062.1:c.442G>T, XM_005259062.1:c.442G>A, XM_006723289.4:c.442G>T, XM_006723289.4:c.442G>A, XM_006723289.3:c.442G>T, XM_006723289.3:c.442G>A, XM_006723289.2:c.442G>T, XM_006723289.2:c.442G>A, XM_006723289.1:c.442G>T, XM_006723289.1:c.442G>A, XM_017026993.3:c.442G>T, XM_017026993.3:c.442G>A, XM_017026993.2:c.442G>T, XM_017026993.2:c.442G>A, XM_017026993.1:c.442G>T, XM_017026993.1:c.442G>A, NM_145888.3:c.442G>T, NM_145888.3:c.442G>A, NM_145888.2:c.442G>T, NM_145888.2:c.442G>A, NM_001077500.2:c.442G>T, NM_001077500.2:c.442G>A, NM_001077500.1:c.442G>T, NM_001077500.1:c.442G>A, XM_047439102.1:c.442G>T, XM_047439102.1:c.442G>A, XP_006723350.1:p.Val148Leu, XP_006723350.1:p.Val148Met, NP_002767.2:p.Val148Leu, NP_002767.2:p.Val148Met, XP_005259118.1:p.Val148Leu, XP_005259118.1:p.Val148Met, XP_005259119.1:p.Val148Leu, XP_005259119.1:p.Val148Met, XP_006723352.1:p.Val148Leu, XP_006723352.1:p.Val148Met, XP_016882482.1:p.Val148Leu, XP_016882482.1:p.Val148Met, NP_665895.1:p.Val148Leu, NP_665895.1:p.Val148Met, NP_001070968.1:p.Val148Leu, NP_001070968.1:p.Val148Met, XP_047295058.1:p.Val148Leu, XP_047295058.1:p.Val148Met
    14.

    rs1455459002 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      19:51016055 (GRCh38)
      19:51519311 (GRCh37)
      Canonical SPDI:
      NC_000019.10:51016054:C:A,NC_000019.10:51016054:C:T
      Gene:
      KLK10 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000011/2 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.51016055C>A, NC_000019.10:g.51016055C>T, NC_000019.9:g.51519311C>A, NC_000019.9:g.51519311C>T, XM_006723287.5:c.371G>T, XM_006723287.5:c.371G>A, XM_006723287.4:c.371G>T, XM_006723287.4:c.371G>A, XM_006723287.3:c.371G>T, XM_006723287.3:c.371G>A, XM_006723287.2:c.371G>T, XM_006723287.2:c.371G>A, XM_006723287.1:c.371G>T, XM_006723287.1:c.371G>A, NM_002776.5:c.371G>T, NM_002776.5:c.371G>A, NM_002776.4:c.371G>T, NM_002776.4:c.371G>A, XM_005259061.4:c.371G>T, XM_005259061.4:c.371G>A, XM_005259061.3:c.371G>T, XM_005259061.3:c.371G>A, XM_005259061.2:c.371G>T, XM_005259061.2:c.371G>A, XM_005259061.1:c.371G>T, XM_005259061.1:c.371G>A, XM_005259062.4:c.371G>T, XM_005259062.4:c.371G>A, XM_005259062.3:c.371G>T, XM_005259062.3:c.371G>A, XM_005259062.2:c.371G>T, XM_005259062.2:c.371G>A, XM_005259062.1:c.371G>T, XM_005259062.1:c.371G>A, XM_006723289.4:c.371G>T, XM_006723289.4:c.371G>A, XM_006723289.3:c.371G>T, XM_006723289.3:c.371G>A, XM_006723289.2:c.371G>T, XM_006723289.2:c.371G>A, XM_006723289.1:c.371G>T, XM_006723289.1:c.371G>A, XM_017026993.3:c.371G>T, XM_017026993.3:c.371G>A, XM_017026993.2:c.371G>T, XM_017026993.2:c.371G>A, XM_017026993.1:c.371G>T, XM_017026993.1:c.371G>A, NM_145888.3:c.371G>T, NM_145888.3:c.371G>A, NM_145888.2:c.371G>T, NM_145888.2:c.371G>A, NM_001077500.2:c.371G>T, NM_001077500.2:c.371G>A, NM_001077500.1:c.371G>T, NM_001077500.1:c.371G>A, XM_047439102.1:c.371G>T, XM_047439102.1:c.371G>A, XP_006723350.1:p.Gly124Val, XP_006723350.1:p.Gly124Asp, NP_002767.2:p.Gly124Val, NP_002767.2:p.Gly124Asp, XP_005259118.1:p.Gly124Val, XP_005259118.1:p.Gly124Asp, XP_005259119.1:p.Gly124Val, XP_005259119.1:p.Gly124Asp, XP_006723352.1:p.Gly124Val, XP_006723352.1:p.Gly124Asp, XP_016882482.1:p.Gly124Val, XP_016882482.1:p.Gly124Asp, NP_665895.1:p.Gly124Val, NP_665895.1:p.Gly124Asp, NP_001070968.1:p.Gly124Val, NP_001070968.1:p.Gly124Asp, XP_047295058.1:p.Gly124Val, XP_047295058.1:p.Gly124Asp

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