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Links from Protein

Items: 1 to 20 of 452

1.

rs1489753510 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    6:32029742 (GRCh38)
    6:31997519 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32029741:G:A,NC_000006.12:32029741:G:C,NC_000006.12:32029741:G:T
    Gene:
    C4B (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000006.12:g.32029742G>A, NC_000006.12:g.32029742G>C, NC_000006.12:g.32029742G>T, NC_000006.11:g.31997519G>A, NC_000006.11:g.31997519G>C, NC_000006.11:g.31997519G>T, NG_011639.1:g.19949G>A, NG_011639.1:g.19949G>C, NG_011639.1:g.19949G>T, NM_001002029.4:c.3853G>A, NM_001002029.4:c.3853G>C, NM_001002029.4:c.3853G>T, NM_001002029.3:c.3853G>A, NM_001002029.3:c.3853G>C, NM_001002029.3:c.3853G>T, NT_167249.2:g.3330932G>A, NT_167249.2:g.3330932G>C, NT_167249.2:g.3330932G>T, NT_167249.1:g.3330230G>A, NT_167249.1:g.3330230G>C, NT_167249.1:g.3330230G>T, NT_113891.3:g.3468064G>A, NT_113891.3:g.3468064G>C, NT_113891.3:g.3468064G>T, NT_113891.2:g.3468170G>A, NT_113891.2:g.3468170G>C, NT_113891.2:g.3468170G>T, NT_167245.2:g.3271150G>A, NT_167245.2:g.3271150G>C, NT_167245.2:g.3271150G>T, NT_167245.1:g.3276735G>A, NT_167245.1:g.3276735G>C, NT_167245.1:g.3276735G>T, NT_167247.2:g.3371779G>A, NT_167247.2:g.3371779G>C, NT_167247.2:g.3371779G>T, NT_167247.1:g.3377364G>A, NT_167247.1:g.3377364G>C, NT_167247.1:g.3377364G>T, NM_000592.4:c.3853G>A, NM_000592.4:c.3853G>C, NM_000592.4:c.3853G>T, NM_001352000.1:c.3853G>A, NM_001352000.1:c.3853G>C, NM_001352000.1:c.3853G>T, NP_001002029.3:p.Ala1285Thr, NP_001002029.3:p.Ala1285Pro, NP_001002029.3:p.Ala1285Ser
    2.

    rs1488789901 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:32030017 (GRCh38)
      6:31997794 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32030016:G:A
      Gene:
      C4B (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000031/4 (GnomAD_exomes)
      HGVS:
      3.

      rs1487882060 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:32026669 (GRCh38)
        6:31994446 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32026668:C:T
        Gene:
        C4B (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        5.

        rs1486793598 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:32028802 (GRCh38)
          6:31996579 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32028801:G:A
          Gene:
          C4B (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          7.

          rs1484925927 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:32030465 (GRCh38)
            6:31998242 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32030464:T:C
            Gene:
            C4B (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            8.
            11.

            rs1479113081 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:32029249 (GRCh38)
              6:31997026 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32029248:C:T
              Gene:
              C4B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000015/2 (GnomAD)
              T=0.000036/1 (TOMMO)
              HGVS:
              12.

              rs1478269579 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:32029925 (GRCh38)
                6:31997702 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32029924:C:T
                Gene:
                C4B (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000007/1 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                HGVS:
                14.

                rs1475966416 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:32028093 (GRCh38)
                  6:31995870 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32028092:C:T
                  Gene:
                  C4B (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  15.
                  17.

                  rs1473404966 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:32029298 (GRCh38)
                    6:31997075 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32029297:T:C
                    Gene:
                    C4B (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    18.

                    rs1473080061 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:32028822 (GRCh38)
                      6:31996599 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32028821:C:T
                      Gene:
                      C4B (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:

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