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Links from Protein

Items: 1 to 20 of 706

1.
8.

rs1484197759 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:965052 (GRCh38)
    19:965052 (GRCh37)
    Canonical SPDI:
    NC_000019.10:965051:C:T
    Gene:
    ARID3A (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000023/6 (TOPMED)
    T=0.000029/4 (GnomAD)
    HGVS:
    9.
    10.

    rs1482938422 has merged into rs753131507 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGCGGC>-,GGC,GGCGGCGGC,GGCGGCGGCGGC [Show Flanks]
      Chromosome:
      19:971946 (GRCh38)
      19:971946 (GRCh37)
      Canonical SPDI:
      NC_000019.10:971933:GGCGGCGGCGGCGGCGGC:GGCGGCGGCGGC,NC_000019.10:971933:GGCGGCGGCGGCGGCGGC:GGCGGCGGCGGCGGC,NC_000019.10:971933:GGCGGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGCGGC,NC_000019.10:971933:GGCGGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGCGGCGGC
      Gene:
      ARID3A (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_insertion,inframe_deletion
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGCGGCGGCGGCGGC=0./0 (ALFA)
      GGC=0.00156/26 (TOMMO)
      HGVS:
      NC_000019.10:g.971934GGC[4], NC_000019.10:g.971934GGC[5], NC_000019.10:g.971934GGC[7], NC_000019.10:g.971934GGC[8], NC_000019.9:g.971934GGC[4], NC_000019.9:g.971934GGC[5], NC_000019.9:g.971934GGC[7], NC_000019.9:g.971934GGC[8], XM_005259513.6:c.1651GGC[4], XM_005259513.6:c.1651GGC[5], XM_005259513.6:c.1651GGC[7], XM_005259513.6:c.1651GGC[8], XM_005259513.5:c.1651GGC[4], XM_005259513.5:c.1651GGC[5], XM_005259513.5:c.1651GGC[7], XM_005259513.5:c.1651GGC[8], XM_005259513.4:c.1651GGC[4], XM_005259513.4:c.1651GGC[5], XM_005259513.4:c.1651GGC[7], XM_005259513.4:c.1651GGC[8], XM_005259513.3:c.1651GGC[4], XM_005259513.3:c.1651GGC[5], XM_005259513.3:c.1651GGC[7], XM_005259513.3:c.1651GGC[8], XM_005259513.2:c.1651GGC[4], XM_005259513.2:c.1651GGC[5], XM_005259513.2:c.1651GGC[7], XM_005259513.2:c.1651GGC[8], XM_005259513.1:c.1651GGC[4], XM_005259513.1:c.1651GGC[5], XM_005259513.1:c.1651GGC[7], XM_005259513.1:c.1651GGC[8], XM_005259514.5:c.1651GGC[4], XM_005259514.5:c.1651GGC[5], XM_005259514.5:c.1651GGC[7], XM_005259514.5:c.1651GGC[8], XM_005259514.4:c.1651GGC[4], XM_005259514.4:c.1651GGC[5], XM_005259514.4:c.1651GGC[7], XM_005259514.4:c.1651GGC[8], XM_005259514.3:c.1651GGC[4], XM_005259514.3:c.1651GGC[5], XM_005259514.3:c.1651GGC[7], XM_005259514.3:c.1651GGC[8], XM_005259514.2:c.1651GGC[4], XM_005259514.2:c.1651GGC[5], XM_005259514.2:c.1651GGC[7], XM_005259514.2:c.1651GGC[8], XM_005259514.1:c.1651GGC[4], XM_005259514.1:c.1651GGC[5], XM_005259514.1:c.1651GGC[7], XM_005259514.1:c.1651GGC[8], NM_005224.3:c.1651GGC[4], NM_005224.3:c.1651GGC[5], NM_005224.3:c.1651GGC[7], NM_005224.3:c.1651GGC[8], NM_005224.2:c.1651GGC[4], NM_005224.2:c.1651GGC[5], NM_005224.2:c.1651GGC[7], NM_005224.2:c.1651GGC[8], XM_017026445.2:c.1651GGC[4], XM_017026445.2:c.1651GGC[5], XM_017026445.2:c.1651GGC[7], XM_017026445.2:c.1651GGC[8], XM_017026445.1:c.1651GGC[4], XM_017026445.1:c.1651GGC[5], XM_017026445.1:c.1651GGC[7], XM_017026445.1:c.1651GGC[8], XM_047438380.1:c.1354GGC[4], XM_047438380.1:c.1354GGC[5], XM_047438380.1:c.1354GGC[7], XM_047438380.1:c.1354GGC[8], XM_047438381.1:c.976GGC[4], XM_047438381.1:c.976GGC[5], XM_047438381.1:c.976GGC[7], XM_047438381.1:c.976GGC[8], XP_005259570.1:p.Gly555_Gly556del, XP_005259570.1:p.Gly556del, XP_005259570.1:p.Gly556dup, XP_005259570.1:p.Gly555_Gly556dup, XP_005259571.1:p.Gly555_Gly556del, XP_005259571.1:p.Gly556del, XP_005259571.1:p.Gly556dup, XP_005259571.1:p.Gly555_Gly556dup, NP_005215.1:p.Gly555_Gly556del, NP_005215.1:p.Gly556del, NP_005215.1:p.Gly556dup, NP_005215.1:p.Gly555_Gly556dup, XP_016881934.1:p.Gly555_Gly556del, XP_016881934.1:p.Gly556del, XP_016881934.1:p.Gly556dup, XP_016881934.1:p.Gly555_Gly556dup, XP_047294336.1:p.Gly456_Gly457del, XP_047294336.1:p.Gly457del, XP_047294336.1:p.Gly457dup, XP_047294336.1:p.Gly456_Gly457dup, XP_047294337.1:p.Gly330_Gly331del, XP_047294337.1:p.Gly331del, XP_047294337.1:p.Gly331dup, XP_047294337.1:p.Gly330_Gly331dup
      13.
      16.

      rs1473621977 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        19:965005 (GRCh38)
        19:965005 (GRCh37)
        Canonical SPDI:
        NC_000019.10:965004:C:G,NC_000019.10:965004:C:T
        Gene:
        ARID3A (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00006/2 (ALFA)
        G=0.000007/1 (GnomAD)
        T=0.000012/3 (GnomAD_exomes)
        T=0.000015/4 (TOPMED)
        HGVS:
        NC_000019.10:g.965005C>G, NC_000019.10:g.965005C>T, NC_000019.9:g.965005C>G, NC_000019.9:g.965005C>T, XM_005259513.6:c.1123C>G, XM_005259513.6:c.1123C>T, XM_005259513.5:c.1123C>G, XM_005259513.5:c.1123C>T, XM_005259513.4:c.1123C>G, XM_005259513.4:c.1123C>T, XM_005259513.3:c.1123C>G, XM_005259513.3:c.1123C>T, XM_005259513.2:c.1123C>G, XM_005259513.2:c.1123C>T, XM_005259513.1:c.1123C>G, XM_005259513.1:c.1123C>T, XM_005259514.5:c.1123C>G, XM_005259514.5:c.1123C>T, XM_005259514.4:c.1123C>G, XM_005259514.4:c.1123C>T, XM_005259514.3:c.1123C>G, XM_005259514.3:c.1123C>T, XM_005259514.2:c.1123C>G, XM_005259514.2:c.1123C>T, XM_005259514.1:c.1123C>G, XM_005259514.1:c.1123C>T, NM_005224.3:c.1123C>G, NM_005224.3:c.1123C>T, NM_005224.2:c.1123C>G, NM_005224.2:c.1123C>T, XM_017026445.2:c.1123C>G, XM_017026445.2:c.1123C>T, XM_017026445.1:c.1123C>G, XM_017026445.1:c.1123C>T, XM_047438380.1:c.1123C>G, XM_047438380.1:c.1123C>T, XM_047438381.1:c.448C>G, XM_047438381.1:c.448C>T, XP_005259570.1:p.Leu375Val, XP_005259571.1:p.Leu375Val, NP_005215.1:p.Leu375Val, XP_016881934.1:p.Leu375Val, XP_047294336.1:p.Leu375Val, XP_047294337.1:p.Leu150Val
        17.

        rs1472856991 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:966732 (GRCh38)
          19:966732 (GRCh37)
          Canonical SPDI:
          NC_000019.10:966731:G:A
          Gene:
          ARID3A (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          18.

          rs1471040359 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:966654 (GRCh38)
            19:966654 (GRCh37)
            Canonical SPDI:
            NC_000019.10:966653:A:C
            Gene:
            ARID3A (Varview)
            Functional Consequence:
            synonymous_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            C=0.000029/4 (GnomAD)
            HGVS:
            20.

            rs1469632916 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:929804 (GRCh38)
              19:929804 (GRCh37)
              Canonical SPDI:
              NC_000019.10:929803:C:T
              Gene:
              ARID3A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD_exomes)
              T=0.000015/4 (TOPMED)
              HGVS:

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