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Links from Protein

Items: 1 to 20 of 121

4.

rs1476221269 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:78035705 (GRCh38)
    10:79795463 (GRCh37)
    Canonical SPDI:
    NC_000010.11:78035704:A:G
    Gene:
    RPS24 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    5.

    rs1445379968 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:78035591 (GRCh38)
      10:79795349 (GRCh37)
      Canonical SPDI:
      NC_000010.11:78035590:C:T
      Gene:
      RPS24 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      6.

      rs1435160969 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:78035648 (GRCh38)
        10:79795406 (GRCh37)
        Canonical SPDI:
        NC_000010.11:78035647:A:G
        Gene:
        RPS24 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        9.

        rs1422707613 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:78037229 (GRCh38)
          10:79796987 (GRCh37)
          Canonical SPDI:
          NC_000010.11:78037228:G:A
          Gene:
          RPS24 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.0005/1 (Korea1K)
          A=0.0014/4 (KOREAN)
          HGVS:
          11.
          14.

          rs1367129065 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:78035594 (GRCh38)
            10:79795352 (GRCh37)
            Canonical SPDI:
            NC_000010.11:78035593:A:G
            Gene:
            RPS24 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            16.

            rs1356907522 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:78037199 (GRCh38)
              10:79796957 (GRCh37)
              Canonical SPDI:
              NC_000010.11:78037198:C:T
              Gene:
              RPS24 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              18.

              rs1346588847 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                10:78037271 (GRCh38)
                10:79797029 (GRCh37)
                Canonical SPDI:
                NC_000010.11:78037270:G:A,NC_000010.11:78037270:G:C,NC_000010.11:78037270:G:T
                Gene:
                RPS24 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                C=0.001092/2 (Korea1K)
                HGVS:
                NC_000010.11:g.78037271G>A, NC_000010.11:g.78037271G>C, NC_000010.11:g.78037271G>T, NC_000010.10:g.79797029G>A, NC_000010.10:g.79797029G>C, NC_000010.10:g.79797029G>T, NG_012633.1:g.8512G>A, NG_012633.1:g.8512G>C, NG_012633.1:g.8512G>T, NM_001026.5:c.357G>A, NM_001026.5:c.357G>C, NM_001026.5:c.357G>T, NM_001026.4:c.357G>A, NM_001026.4:c.357G>C, NM_001026.4:c.357G>T, NM_033022.4:c.357G>A, NM_033022.4:c.357G>C, NM_033022.4:c.357G>T, NM_033022.3:c.357G>A, NM_033022.3:c.357G>C, NM_033022.3:c.357G>T, NM_001142285.2:c.357G>A, NM_001142285.2:c.357G>C, NM_001142285.2:c.357G>T, NM_001142285.1:c.357G>A, NM_001142285.1:c.357G>C, NM_001142285.1:c.357G>T, NM_001142283.2:c.357G>A, NM_001142283.2:c.357G>C, NM_001142283.2:c.357G>T, NM_001142283.1:c.357G>A, NM_001142283.1:c.357G>C, NM_001142283.1:c.357G>T, NM_001142284.2:c.357G>A, NM_001142284.2:c.357G>C, NM_001142284.2:c.357G>T, NM_001142284.1:c.357G>A, NM_001142284.1:c.357G>C, NM_001142284.1:c.357G>T, NM_001142282.2:c.357G>A, NM_001142282.2:c.357G>C, NM_001142282.2:c.357G>T, NM_001142282.1:c.357G>A, NM_001142282.1:c.357G>C, NM_001142282.1:c.357G>T
                19.

                rs1344326444 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:78037286 (GRCh38)
                  10:79797044 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:78037285:T:C
                  Gene:
                  RPS24 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:

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