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Links from Protein

Items: 1 to 20 of 451

1.

rs1490970226 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:184193686 (GRCh38)
    3:183911474 (GRCh37)
    Canonical SPDI:
    NC_000003.12:184193685:A:G
    Gene:
    ABCF3 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.
    3.

    rs1477993289 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      3:184191037 (GRCh38)
      3:183908825 (GRCh37)
      Canonical SPDI:
      NC_000003.12:184191036:T:A
      Gene:
      ABCF3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      4.
      5.
      6.

      rs1465395234 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:184191180 (GRCh38)
        3:183908968 (GRCh37)
        Canonical SPDI:
        NC_000003.12:184191179:T:C
        Gene:
        ABCF3 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (GnomAD_exomes)
        C=0.000011/3 (TOPMED)
        HGVS:
        7.

        rs1464881328 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          3:184189566 (GRCh38)
          3:183907354 (GRCh37)
          Canonical SPDI:
          NC_000003.12:184189565:T:A
          Gene:
          ABCF3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          8.

          rs1463634357 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:184193208 (GRCh38)
            3:183910996 (GRCh37)
            Canonical SPDI:
            NC_000003.12:184193207:G:A
            Gene:
            ABCF3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            9.
            10.

            rs1461412671 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:184193556 (GRCh38)
              3:183911344 (GRCh37)
              Canonical SPDI:
              NC_000003.12:184193555:T:C
              Gene:
              ABCF3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              HGVS:
              12.

              rs1458101019 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:184193445 (GRCh38)
                3:183911233 (GRCh37)
                Canonical SPDI:
                NC_000003.12:184193444:A:G
                Gene:
                ABCF3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                13.

                rs1451500468 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:184191168 (GRCh38)
                  3:183908956 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:184191167:A:G
                  Gene:
                  ABCF3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000028/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  14.

                  rs1450443619 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:184189091 (GRCh38)
                    3:183906879 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:184189090:G:A
                    Gene:
                    ABCF3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000011/3 (TOPMED)
                    A=0.000029/4 (GnomAD)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    16.
                    17.

                    rs1441909589 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:184193147 (GRCh38)
                      3:183910935 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:184193146:T:C
                      Gene:
                      ABCF3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      18.

                      rs1441117149 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        3:184189712 (GRCh38)
                        3:183907500 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:184189711:G:C
                        Gene:
                        ABCF3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000063/2 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        20.

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