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Links from Protein

Items: 1 to 20 of 783

6.

rs1486956462 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    12:15631507 (GRCh38)
    12:15784441 (GRCh37)
    Canonical SPDI:
    NC_000012.12:15631506:C:A,NC_000012.12:15631506:C:G
    Gene:
    EPS8 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.15631507C>A, NC_000012.12:g.15631507C>G, NC_000012.11:g.15784441C>A, NC_000012.11:g.15784441C>G, NG_041808.1:g.163070G>T, NG_041808.1:g.163070G>C, NM_004447.6:c.1979G>T, NM_004447.6:c.1979G>C, NM_004447.5:c.1979G>T, NM_004447.5:c.1979G>C, XM_011520605.4:c.2039G>T, XM_011520605.4:c.2039G>C, XM_011520605.3:c.2039G>T, XM_011520605.3:c.2039G>C, XM_011520605.2:c.2039G>T, XM_011520605.2:c.2039G>C, XM_011520605.1:c.2039G>T, XM_011520605.1:c.2039G>C, XM_024448882.2:c.1979G>T, XM_024448882.2:c.1979G>C, XM_024448882.1:c.1979G>T, XM_024448882.1:c.1979G>C, XM_024448879.2:c.1979G>T, XM_024448879.2:c.1979G>C, XM_024448879.1:c.1979G>T, XM_024448879.1:c.1979G>C, XM_024448880.2:c.1979G>T, XM_024448880.2:c.1979G>C, XM_024448880.1:c.1979G>T, XM_024448880.1:c.1979G>C, XM_024448878.2:c.2012G>T, XM_024448878.2:c.2012G>C, XM_024448878.1:c.2012G>T, XM_024448878.1:c.2012G>C, XM_047428495.1:c.1979G>T, XM_047428495.1:c.1979G>C, XM_047428494.1:c.2039G>T, XM_047428494.1:c.2039G>C, XM_047428498.1:c.1979G>T, XM_047428498.1:c.1979G>C, XM_047428497.1:c.1979G>T, XM_047428497.1:c.1979G>C, XM_047428496.1:c.1979G>T, XM_047428496.1:c.1979G>C, XM_047428499.1:c.1979G>T, XM_047428499.1:c.1979G>C, NP_004438.3:p.Ser660Ile, NP_004438.3:p.Ser660Thr, XP_011518907.1:p.Ser680Ile, XP_011518907.1:p.Ser680Thr, XP_024304650.1:p.Ser660Ile, XP_024304650.1:p.Ser660Thr, XP_024304647.1:p.Ser660Ile, XP_024304647.1:p.Ser660Thr, XP_024304648.1:p.Ser660Ile, XP_024304648.1:p.Ser660Thr, XP_024304646.1:p.Ser671Ile, XP_024304646.1:p.Ser671Thr, XP_047284451.1:p.Ser660Ile, XP_047284451.1:p.Ser660Thr, XP_047284450.1:p.Ser680Ile, XP_047284450.1:p.Ser680Thr, XP_047284454.1:p.Ser660Ile, XP_047284454.1:p.Ser660Thr, XP_047284453.1:p.Ser660Ile, XP_047284453.1:p.Ser660Thr, XP_047284452.1:p.Ser660Ile, XP_047284452.1:p.Ser660Thr, XP_047284455.1:p.Ser660Ile, XP_047284455.1:p.Ser660Thr
    13.
    15.
    18.

    rs1471079858 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      12:15650847 (GRCh38)
      12:15803781 (GRCh37)
      Canonical SPDI:
      NC_000012.12:15650846:C:G,NC_000012.12:15650846:C:T
      Gene:
      EPS8 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000012.12:g.15650847C>G, NC_000012.12:g.15650847C>T, NC_000012.11:g.15803781C>G, NC_000012.11:g.15803781C>T, NG_041808.1:g.143730G>C, NG_041808.1:g.143730G>A, NM_004447.6:c.1410G>C, NM_004447.6:c.1410G>A, NM_004447.5:c.1410G>C, NM_004447.5:c.1410G>A, XM_011520605.4:c.1470G>C, XM_011520605.4:c.1470G>A, XM_011520605.3:c.1470G>C, XM_011520605.3:c.1470G>A, XM_011520605.2:c.1470G>C, XM_011520605.2:c.1470G>A, XM_011520605.1:c.1470G>C, XM_011520605.1:c.1470G>A, XM_024448882.2:c.1410G>C, XM_024448882.2:c.1410G>A, XM_024448882.1:c.1410G>C, XM_024448882.1:c.1410G>A, XM_024448879.2:c.1410G>C, XM_024448879.2:c.1410G>A, XM_024448879.1:c.1410G>C, XM_024448879.1:c.1410G>A, XM_024448880.2:c.1410G>C, XM_024448880.2:c.1410G>A, XM_024448880.1:c.1410G>C, XM_024448880.1:c.1410G>A, XM_024448878.2:c.1443G>C, XM_024448878.2:c.1443G>A, XM_024448878.1:c.1443G>C, XM_024448878.1:c.1443G>A, XM_047428495.1:c.1410G>C, XM_047428495.1:c.1410G>A, XM_047428494.1:c.1470G>C, XM_047428494.1:c.1470G>A, XM_047428498.1:c.1410G>C, XM_047428498.1:c.1410G>A, XM_047428497.1:c.1410G>C, XM_047428497.1:c.1410G>A, XM_047428496.1:c.1410G>C, XM_047428496.1:c.1410G>A, XM_047428499.1:c.1410G>C, XM_047428499.1:c.1410G>A, NP_004438.3:p.Gln470His, XP_011518907.1:p.Gln490His, XP_024304650.1:p.Gln470His, XP_024304647.1:p.Gln470His, XP_024304648.1:p.Gln470His, XP_024304646.1:p.Gln481His, XP_047284451.1:p.Gln470His, XP_047284450.1:p.Gln490His, XP_047284454.1:p.Gln470His, XP_047284453.1:p.Gln470His, XP_047284452.1:p.Gln470His, XP_047284455.1:p.Gln470His

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