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Links from Protein

Items: 1 to 20 of 490

2.

rs1488252724 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:98119135 (GRCh38)
    9:100881417 (GRCh37)
    Canonical SPDI:
    NC_000009.12:98119134:C:T
    Gene:
    TRIM14 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.00001/2 (GnomAD_exomes)
    HGVS:
    15.

    rs1457024172 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      9:98100129 (GRCh38)
      9:100862411 (GRCh37)
      Canonical SPDI:
      NC_000009.12:98100128:C:A,NC_000009.12:98100128:C:T
      Gene:
      TRIM14 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000009.12:g.98100129C>A, NC_000009.12:g.98100129C>T, NC_000009.11:g.100862411C>A, NC_000009.11:g.100862411C>T, XM_005252320.5:c.339G>T, XM_005252320.5:c.339G>A, XM_005252320.4:c.339G>T, XM_005252320.4:c.339G>A, XM_005252320.3:c.339G>T, XM_005252320.3:c.339G>A, XM_005252320.2:c.339G>T, XM_005252320.2:c.339G>A, XM_005252320.1:c.339G>T, XM_005252320.1:c.339G>A, NM_014788.4:c.339G>T, NM_014788.4:c.339G>A, NM_014788.3:c.339G>T, NM_014788.3:c.339G>A, NM_014788.2:c.339G>T, NM_014788.2:c.339G>A, XR_929880.4:n.373G>T, XR_929880.4:n.373G>A, XR_929880.3:n.569G>T, XR_929880.3:n.569G>A, XR_929880.2:n.568G>T, XR_929880.2:n.568G>A, XR_929880.1:n.559G>T, XR_929880.1:n.559G>A, XM_011519244.3:c.-133G>T, XM_011519244.3:c.-133G>A, XM_011519244.2:c.-133G>T, XM_011519244.2:c.-133G>A, XM_011519244.1:c.-133G>T, XM_011519244.1:c.-133G>A, XM_017015353.3:c.339G>T, XM_017015353.3:c.339G>A, XM_017015353.2:c.339G>T, XM_017015353.2:c.339G>A, XM_017015353.1:c.339G>T, XM_017015353.1:c.339G>A, NM_033219.3:c.339G>T, NM_033219.3:c.339G>A, NM_033219.2:c.339G>T, NM_033219.2:c.339G>A, NM_033219.1:c.339G>T, NM_033219.1:c.339G>A, XM_047424164.1:c.189G>T, XM_047424164.1:c.189G>A, XM_047424163.1:c.189G>T, XM_047424163.1:c.189G>A, NM_033221.1:c.339G>T, NM_033221.1:c.339G>A, XM_047424160.1:c.339G>T, XM_047424160.1:c.339G>A, NM_033220.1:c.339G>T, NM_033220.1:c.339G>A, XM_047424161.1:c.339G>T, XM_047424161.1:c.339G>A, XM_047424162.1:c.339G>T, XM_047424162.1:c.339G>A
      19.

      rs1447190052 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TGC [Show Flanks]
        Chromosome:
        9:98087888 (GRCh38)
        9:100850171 (GRCh37)
        Canonical SPDI:
        NC_000009.12:98087888:GC:GCTGC
        Gene:
        TRIM14 (Varview)
        Functional Consequence:
        inframe_insertion,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GCTGC=0./0 (ALFA)
        GCT=0.000004/1 (TOPMED)
        GCT=0.000005/1 (GnomAD_exomes)
        GCT=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.98087890_98087891insTGC, NC_000009.11:g.100850172_100850173insTGC, XM_005252320.5:c.910_911insAGC, XM_005252320.4:c.910_911insAGC, XM_005252320.3:c.910_911insAGC, XM_005252320.2:c.910_911insAGC, XM_005252320.1:c.910_911insAGC, NM_014788.4:c.910_911insAGC, NM_014788.3:c.910_911insAGC, NM_014788.2:c.910_911insAGC, XR_929880.4:n.944_945insAGC, XR_929880.3:n.1140_1141insAGC, XR_929880.2:n.1139_1140insAGC, XR_929880.1:n.1130_1131insAGC, XM_011519244.3:c.439_440insAGC, XM_011519244.2:c.439_440insAGC, XM_011519244.1:c.439_440insAGC, XM_017015353.3:c.910_911insAGC, XM_017015353.2:c.910_911insAGC, XM_017015353.1:c.910_911insAGC, NM_033219.3:c.910_911insAGC, NM_033219.2:c.910_911insAGC, NM_033219.1:c.910_911insAGC, XM_047424164.1:c.760_761insAGC, XM_047424163.1:c.760_761insAGC, XM_047424160.1:c.910_911insAGC, NM_033220.1:c.910_911insAGC, XM_047424161.1:c.910_911insAGC, XM_047424162.1:c.910_911insAGC, XP_005252377.1:p.Arg304_Phe305insGln, NP_055603.2:p.Arg304_Phe305insGln, XP_011517546.1:p.Arg147_Phe148insGln, XP_016870842.1:p.Arg304_Phe305insGln, NP_150088.1:p.Arg304_Phe305insGln, XP_047280120.1:p.Arg254_Phe255insGln, XP_047280119.1:p.Arg254_Phe255insGln, XP_047280116.1:p.Arg304_Phe305insGln, XP_047280117.1:p.Arg304_Phe305insGln, XP_047280118.1:p.Arg304_Phe305insGln

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