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Links from Protein

Items: 1 to 20 of 284

14.

rs1431690633 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    20:1181072 (GRCh38)
    20:1161716 (GRCh37)
    Canonical SPDI:
    NC_000020.11:1181071:G:A,NC_000020.11:1181071:G:C
    Gene:
    TMEM74B (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000020.11:g.1181072G>A, NC_000020.11:g.1181072G>C, NC_000020.10:g.1161716G>A, NC_000020.10:g.1161716G>C, XM_011529281.3:c.718C>T, XM_011529281.3:c.718C>G, XM_011529281.2:c.718C>T, XM_011529281.2:c.718C>G, XM_011529281.1:c.718C>T, XM_011529281.1:c.718C>G, NM_018354.3:c.547C>T, NM_018354.3:c.547C>G, NM_018354.2:c.547C>T, NM_018354.2:c.547C>G, NM_018354.1:c.547C>T, NM_018354.1:c.547C>G, XM_017027924.2:c.547C>T, XM_017027924.2:c.547C>G, XM_017027924.1:c.547C>T, XM_017027924.1:c.547C>G, NM_001304748.2:c.547C>T, NM_001304748.2:c.547C>G, NM_001304748.1:c.547C>T, NM_001304748.1:c.547C>G, XM_017027925.2:c.475C>T, XM_017027925.2:c.475C>G, XM_017027925.1:c.475C>T, XM_017027925.1:c.475C>G, NM_001304749.2:c.475C>T, NM_001304749.2:c.475C>G, NM_001304749.1:c.475C>T, NM_001304749.1:c.475C>G, XM_017027923.2:c.643C>T, XM_017027923.2:c.643C>G, XM_017027923.1:c.643C>T, XM_017027923.1:c.643C>G, NM_001387330.1:c.547C>T, NM_001387330.1:c.547C>G, NM_001387331.1:c.547C>T, NM_001387331.1:c.547C>G, NM_001387334.1:c.547C>T, NM_001387334.1:c.547C>G, NM_001387333.1:c.547C>T, NM_001387333.1:c.547C>G, NM_001387332.1:c.547C>T, NM_001387332.1:c.547C>G, XM_047440257.1:c.547C>T, XM_047440257.1:c.547C>G, NM_001387329.1:c.475C>T, NM_001387329.1:c.475C>G, XP_011527583.1:p.Leu240Val, NP_060824.1:p.Leu183Val, XP_016883413.1:p.Leu183Val, NP_001291677.1:p.Leu183Val, XP_016883414.1:p.Leu159Val, NP_001291678.1:p.Leu159Val, XP_016883412.1:p.Leu215Val, NP_001374259.1:p.Leu183Val, NP_001374260.1:p.Leu183Val, NP_001374263.1:p.Leu183Val, NP_001374262.1:p.Leu183Val, NP_001374261.1:p.Leu183Val, XP_047296213.1:p.Leu183Val, NP_001374258.1:p.Leu159Val
    15.

    rs1421829239 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GCCTGCGATGATGCACCTGTC [Show Flanks]
      Chromosome:
      20:1181078 (GRCh38)
      20:1161723 (GRCh37)
      Canonical SPDI:
      NC_000020.11:1181078:GCCTGCGATGATGCACCTGTC:GCCTGCGATGATGCACCTGTCGCCTGCGATGATGCACCTGTC
      Gene:
      TMEM74B (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_insertion
      Validated:
      by frequency
      MAF:
      GCCTGCGATGATGCACCTGTC=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.1181079_1181099dup, NC_000020.10:g.1161723_1161743dup, XM_011529281.3:c.691_711dup, XM_011529281.2:c.691_711dup, XM_011529281.1:c.691_711dup, NM_018354.3:c.520_540dup, NM_018354.2:c.520_540dup, NM_018354.1:c.520_540dup, XM_017027924.2:c.520_540dup, XM_017027924.1:c.520_540dup, NM_001304748.2:c.520_540dup, NM_001304748.1:c.520_540dup, XM_017027925.2:c.448_468dup, XM_017027925.1:c.448_468dup, NM_001304749.2:c.448_468dup, NM_001304749.1:c.448_468dup, XM_017027923.2:c.616_636dup, XM_017027923.1:c.616_636dup, NM_001387330.1:c.520_540dup, NM_001387331.1:c.520_540dup, NM_001387334.1:c.520_540dup, NM_001387333.1:c.520_540dup, NM_001387332.1:c.520_540dup, XM_047440257.1:c.520_540dup, NM_001387329.1:c.448_468dup, XP_011527583.1:p.Asp231_Gly237dup, NP_060824.1:p.Asp174_Gly180dup, XP_016883413.1:p.Asp174_Gly180dup, NP_001291677.1:p.Asp174_Gly180dup, XP_016883414.1:p.Asp150_Gly156dup, NP_001291678.1:p.Asp150_Gly156dup, XP_016883412.1:p.Asp206_Gly212dup, NP_001374259.1:p.Asp174_Gly180dup, NP_001374260.1:p.Asp174_Gly180dup, NP_001374263.1:p.Asp174_Gly180dup, NP_001374262.1:p.Asp174_Gly180dup, NP_001374261.1:p.Asp174_Gly180dup, XP_047296213.1:p.Asp174_Gly180dup, NP_001374258.1:p.Asp150_Gly156dup

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