U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 748

2.

rs1489041792 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    2:27342985 (GRCh38)
    2:27565852 (GRCh37)
    Canonical SPDI:
    NC_000002.12:27342984:G:C,NC_000002.12:27342984:G:T
    Gene:
    GTF3C2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.27342985G>C, NC_000002.12:g.27342985G>T, NC_000002.11:g.27565852G>C, NC_000002.11:g.27565852G>T, NM_001318909.4:c.410C>G, NM_001318909.4:c.410C>A, NM_001318909.3:c.410C>G, NM_001318909.3:c.410C>A, NM_001318909.2:c.443C>G, NM_001318909.2:c.443C>A, NM_001318909.1:c.443C>G, NM_001318909.1:c.443C>A, NM_001521.4:c.410C>G, NM_001521.4:c.410C>A, NM_001521.3:c.410C>G, NM_001521.3:c.410C>A, NM_001388380.3:c.410C>G, NM_001388380.3:c.410C>A, NM_001388380.2:c.410C>G, NM_001388380.2:c.410C>A, NM_001388380.1:c.527C>G, NM_001388380.1:c.527C>A, NM_001035521.3:c.410C>G, NM_001035521.3:c.410C>A, NM_001035521.2:c.410C>G, NM_001035521.2:c.410C>A, NM_001394510.1:c.410C>G, NM_001394510.1:c.410C>A, XM_047444016.1:c.755C>G, XM_047444016.1:c.755C>A, NM_001394509.1:c.410C>G, NM_001394509.1:c.410C>A, NM_001394508.1:c.410C>G, NM_001394508.1:c.410C>A, NM_001394505.1:c.410C>G, NM_001394505.1:c.410C>A, NM_001394506.1:c.410C>G, NM_001394506.1:c.410C>A, NM_001394507.1:c.410C>G, NM_001394507.1:c.410C>A, NM_001394511.1:c.410C>G, NM_001394511.1:c.410C>A, NM_001394504.1:c.410C>G, NM_001394504.1:c.410C>A, NM_001394503.1:c.410C>G, NM_001394503.1:c.410C>A, NM_001394512.1:c.410C>G, NM_001394512.1:c.410C>A, NM_001394514.1:c.410C>G, NM_001394514.1:c.410C>A, NM_001394515.1:c.410C>G, NM_001394515.1:c.410C>A, NM_001394516.1:c.410C>G, NM_001394516.1:c.410C>A, NP_001305838.2:p.Thr137Ser, NP_001305838.2:p.Thr137Asn, NP_001512.1:p.Thr137Ser, NP_001512.1:p.Thr137Asn, NP_001375309.2:p.Thr137Ser, NP_001375309.2:p.Thr137Asn, NP_001030598.1:p.Thr137Ser, NP_001030598.1:p.Thr137Asn, NP_001381439.1:p.Thr137Ser, NP_001381439.1:p.Thr137Asn, XP_047299972.1:p.Thr252Ser, XP_047299972.1:p.Thr252Asn, NP_001381438.1:p.Thr137Ser, NP_001381438.1:p.Thr137Asn, NP_001381437.1:p.Thr137Ser, NP_001381437.1:p.Thr137Asn, NP_001381434.1:p.Thr137Ser, NP_001381434.1:p.Thr137Asn, NP_001381435.1:p.Thr137Ser, NP_001381435.1:p.Thr137Asn, NP_001381436.1:p.Thr137Ser, NP_001381436.1:p.Thr137Asn, NP_001381440.1:p.Thr137Ser, NP_001381440.1:p.Thr137Asn, NP_001381433.1:p.Thr137Ser, NP_001381433.1:p.Thr137Asn, NP_001381432.1:p.Thr137Ser, NP_001381432.1:p.Thr137Asn, NP_001381441.1:p.Thr137Ser, NP_001381441.1:p.Thr137Asn, NP_001381443.1:p.Thr137Ser, NP_001381443.1:p.Thr137Asn, NP_001381444.1:p.Thr137Ser, NP_001381444.1:p.Thr137Asn, NP_001381445.1:p.Thr137Ser, NP_001381445.1:p.Thr137Asn
    3.
    4.
    5.

    rs1485441780 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      2:27333989 (GRCh38)
      2:27556856 (GRCh37)
      Canonical SPDI:
      NC_000002.12:27333988:C:G,NC_000002.12:27333988:C:T
      Gene:
      GTF3C2 (Varview), GTF3C2-AS1 (Varview)
      Functional Consequence:
      intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.27333989C>G, NC_000002.12:g.27333989C>T, NC_000002.11:g.27556856C>G, NC_000002.11:g.27556856C>T, NM_001318909.4:c.1587G>C, NM_001318909.4:c.1587G>A, NM_001318909.3:c.1587G>C, NM_001318909.3:c.1587G>A, NM_001318909.2:c.1620G>C, NM_001318909.2:c.1620G>A, NM_001318909.1:c.1620G>C, NM_001318909.1:c.1620G>A, NM_001521.4:c.1587G>C, NM_001521.4:c.1587G>A, NM_001521.3:c.1587G>C, NM_001521.3:c.1587G>A, NM_001388380.3:c.1587G>C, NM_001388380.3:c.1587G>A, NM_001388380.2:c.1587G>C, NM_001388380.2:c.1587G>A, NM_001388380.1:c.1704G>C, NM_001388380.1:c.1704G>A, NM_001035521.3:c.1587G>C, NM_001035521.3:c.1587G>A, NM_001035521.2:c.1587G>C, NM_001035521.2:c.1587G>A, NM_001394510.1:c.1587G>C, NM_001394510.1:c.1587G>A, XM_047444016.1:c.1932G>C, XM_047444016.1:c.1932G>A, NM_001394509.1:c.1587G>C, NM_001394509.1:c.1587G>A, NM_001394508.1:c.1587G>C, NM_001394508.1:c.1587G>A, NM_001394505.1:c.1587G>C, NM_001394505.1:c.1587G>A, NM_001394506.1:c.1587G>C, NM_001394506.1:c.1587G>A, NM_001394507.1:c.1587G>C, NM_001394507.1:c.1587G>A, NM_001394511.1:c.1587G>C, NM_001394511.1:c.1587G>A, NM_001394504.1:c.1587G>C, NM_001394504.1:c.1587G>A, NM_001394503.1:c.1587G>C, NM_001394503.1:c.1587G>A, NM_001394512.1:c.1575G>C, NM_001394512.1:c.1575G>A, NM_001394514.1:c.1509G>C, NM_001394514.1:c.1509G>A, NM_001394516.1:c.1359G>C, NM_001394516.1:c.1359G>A, NP_001305838.2:p.Lys529Asn, NP_001512.1:p.Lys529Asn, NP_001375309.2:p.Lys529Asn, NP_001030598.1:p.Lys529Asn, NP_001381439.1:p.Lys529Asn, XP_047299972.1:p.Lys644Asn, NP_001381438.1:p.Lys529Asn, NP_001381437.1:p.Lys529Asn, NP_001381434.1:p.Lys529Asn, NP_001381435.1:p.Lys529Asn, NP_001381436.1:p.Lys529Asn, NP_001381440.1:p.Lys529Asn, NP_001381433.1:p.Lys529Asn, NP_001381432.1:p.Lys529Asn, NP_001381441.1:p.Lys525Asn, NP_001381443.1:p.Lys503Asn, NP_001381445.1:p.Lys453Asn
      6.

      rs1485214599 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        2:27333701 (GRCh38)
        2:27556568 (GRCh37)
        Canonical SPDI:
        NC_000002.12:27333700:C:A,NC_000002.12:27333700:C:T
        Gene:
        GTF3C2 (Varview), GTF3C2-AS1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.27333701C>A, NC_000002.12:g.27333701C>T, NC_000002.11:g.27556568C>A, NC_000002.11:g.27556568C>T, NM_001318909.4:c.1686G>T, NM_001318909.4:c.1686G>A, NM_001318909.3:c.1686G>T, NM_001318909.3:c.1686G>A, NM_001318909.2:c.1719G>T, NM_001318909.2:c.1719G>A, NM_001318909.1:c.1719G>T, NM_001318909.1:c.1719G>A, NM_001521.4:c.1686G>T, NM_001521.4:c.1686G>A, NM_001521.3:c.1686G>T, NM_001521.3:c.1686G>A, NM_001388380.3:c.1686G>T, NM_001388380.3:c.1686G>A, NM_001388380.2:c.1686G>T, NM_001388380.2:c.1686G>A, NM_001388380.1:c.1803G>T, NM_001388380.1:c.1803G>A, NM_001035521.3:c.1686G>T, NM_001035521.3:c.1686G>A, NM_001035521.2:c.1686G>T, NM_001035521.2:c.1686G>A, NM_001394510.1:c.1686G>T, NM_001394510.1:c.1686G>A, XM_047444016.1:c.2031G>T, XM_047444016.1:c.2031G>A, NM_001394509.1:c.1686G>T, NM_001394509.1:c.1686G>A, NM_001394508.1:c.1686G>T, NM_001394508.1:c.1686G>A, NM_001394505.1:c.1686G>T, NM_001394505.1:c.1686G>A, NM_001394506.1:c.1686G>T, NM_001394506.1:c.1686G>A, NM_001394507.1:c.1686G>T, NM_001394507.1:c.1686G>A, NM_001394511.1:c.1686G>T, NM_001394511.1:c.1686G>A, NM_001394504.1:c.1686G>T, NM_001394504.1:c.1686G>A, NM_001394503.1:c.1686G>T, NM_001394503.1:c.1686G>A, NM_001394512.1:c.1674G>T, NM_001394512.1:c.1674G>A, NM_001394514.1:c.1608G>T, NM_001394514.1:c.1608G>A, NM_001394516.1:c.1458G>T, NM_001394516.1:c.1458G>A, NP_001305838.2:p.Trp562Cys, NP_001305838.2:p.Trp562Ter, NP_001512.1:p.Trp562Cys, NP_001512.1:p.Trp562Ter, NP_001375309.2:p.Trp562Cys, NP_001375309.2:p.Trp562Ter, NP_001030598.1:p.Trp562Cys, NP_001030598.1:p.Trp562Ter, NP_001381439.1:p.Trp562Cys, NP_001381439.1:p.Trp562Ter, XP_047299972.1:p.Trp677Cys, XP_047299972.1:p.Trp677Ter, NP_001381438.1:p.Trp562Cys, NP_001381438.1:p.Trp562Ter, NP_001381437.1:p.Trp562Cys, NP_001381437.1:p.Trp562Ter, NP_001381434.1:p.Trp562Cys, NP_001381434.1:p.Trp562Ter, NP_001381435.1:p.Trp562Cys, NP_001381435.1:p.Trp562Ter, NP_001381436.1:p.Trp562Cys, NP_001381436.1:p.Trp562Ter, NP_001381440.1:p.Trp562Cys, NP_001381440.1:p.Trp562Ter, NP_001381433.1:p.Trp562Cys, NP_001381433.1:p.Trp562Ter, NP_001381432.1:p.Trp562Cys, NP_001381432.1:p.Trp562Ter, NP_001381441.1:p.Trp558Cys, NP_001381441.1:p.Trp558Ter, NP_001381443.1:p.Trp536Cys, NP_001381443.1:p.Trp536Ter, NP_001381445.1:p.Trp486Cys, NP_001381445.1:p.Trp486Ter
        7.

        rs1483171840 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          2:27327216 (GRCh38)
          2:27550083 (GRCh37)
          Canonical SPDI:
          NC_000002.12:27327215:T:C,NC_000002.12:27327215:T:G
          Gene:
          GTF3C2 (Varview)
          Functional Consequence:
          synonymous_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0./0 (GnomAD)
          C=0.000008/2 (GnomAD_exomes)
          G=0.001092/2 (Korea1K)
          HGVS:
          NC_000002.12:g.27327216T>C, NC_000002.12:g.27327216T>G, NC_000002.11:g.27550083T>C, NC_000002.11:g.27550083T>G, NG_008075.2:g.881A>G, NG_008075.2:g.881A>C, NG_008075.1:g.349A>G, NG_008075.1:g.349A>C, NM_001318909.4:c.2478A>G, NM_001318909.4:c.2478A>C, NM_001318909.3:c.2478A>G, NM_001318909.3:c.2478A>C, NM_001318909.2:c.2511A>G, NM_001318909.2:c.2511A>C, NM_001318909.1:c.2511A>G, NM_001318909.1:c.2511A>C, NM_001521.4:c.2478A>G, NM_001521.4:c.2478A>C, NM_001521.3:c.2478A>G, NM_001521.3:c.2478A>C, NM_001388380.3:c.2478A>G, NM_001388380.3:c.2478A>C, NM_001388380.2:c.2478A>G, NM_001388380.2:c.2478A>C, NM_001388380.1:c.2595A>G, NM_001388380.1:c.2595A>C, NM_001035521.3:c.2478A>G, NM_001035521.3:c.2478A>C, NM_001035521.2:c.2478A>G, NM_001035521.2:c.2478A>C, NM_001394510.1:c.2478A>G, NM_001394510.1:c.2478A>C, XM_047444016.1:c.2823A>G, XM_047444016.1:c.2823A>C, NM_001394509.1:c.2478A>G, NM_001394509.1:c.2478A>C, NM_001394508.1:c.2478A>G, NM_001394508.1:c.2478A>C, NM_001394505.1:c.2478A>G, NM_001394505.1:c.2478A>C, NM_001394506.1:c.2478A>G, NM_001394506.1:c.2478A>C, NM_001394507.1:c.2478A>G, NM_001394507.1:c.2478A>C, NM_001394511.1:c.2478A>G, NM_001394511.1:c.2478A>C, NM_001394504.1:c.2478A>G, NM_001394504.1:c.2478A>C, NM_001394503.1:c.2478A>G, NM_001394503.1:c.2478A>C, NM_001394512.1:c.2466A>G, NM_001394512.1:c.2466A>C, NM_001394514.1:c.2400A>G, NM_001394514.1:c.2400A>C, NM_001394515.1:c.2322A>G, NM_001394515.1:c.2322A>C, NM_001394516.1:c.2250A>G, NM_001394516.1:c.2250A>C, NP_001305838.2:p.Gln826His, NP_001512.1:p.Gln826His, NP_001375309.2:p.Gln826His, NP_001030598.1:p.Gln826His, NP_001381439.1:p.Gln826His, XP_047299972.1:p.Gln941His, NP_001381438.1:p.Gln826His, NP_001381437.1:p.Gln826His, NP_001381434.1:p.Gln826His, NP_001381435.1:p.Gln826His, NP_001381436.1:p.Gln826His, NP_001381440.1:p.Gln826His, NP_001381433.1:p.Gln826His, NP_001381432.1:p.Gln826His, NP_001381441.1:p.Gln822His, NP_001381443.1:p.Gln800His, NP_001381444.1:p.Gln774His, NP_001381445.1:p.Gln750His
          8.

          rs1481891254 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            2:27342226 (GRCh38)
            2:27565093 (GRCh37)
            Canonical SPDI:
            NC_000002.12:27342225:G:A,NC_000002.12:27342225:G:C
            Gene:
            GTF3C2 (Varview)
            Functional Consequence:
            synonymous_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.27342226G>A, NC_000002.12:g.27342226G>C, NC_000002.11:g.27565093G>A, NC_000002.11:g.27565093G>C, NM_001318909.4:c.577C>T, NM_001318909.4:c.577C>G, NM_001318909.3:c.577C>T, NM_001318909.3:c.577C>G, NM_001318909.2:c.610C>T, NM_001318909.2:c.610C>G, NM_001318909.1:c.610C>T, NM_001318909.1:c.610C>G, NM_001521.4:c.577C>T, NM_001521.4:c.577C>G, NM_001521.3:c.577C>T, NM_001521.3:c.577C>G, NM_001388380.3:c.577C>T, NM_001388380.3:c.577C>G, NM_001388380.2:c.577C>T, NM_001388380.2:c.577C>G, NM_001388380.1:c.694C>T, NM_001388380.1:c.694C>G, NM_001035521.3:c.577C>T, NM_001035521.3:c.577C>G, NM_001035521.2:c.577C>T, NM_001035521.2:c.577C>G, NM_001394510.1:c.577C>T, NM_001394510.1:c.577C>G, XM_047444016.1:c.922C>T, XM_047444016.1:c.922C>G, NM_001394509.1:c.577C>T, NM_001394509.1:c.577C>G, NM_001394508.1:c.577C>T, NM_001394508.1:c.577C>G, NM_001394505.1:c.577C>T, NM_001394505.1:c.577C>G, NM_001394506.1:c.577C>T, NM_001394506.1:c.577C>G, NM_001394507.1:c.577C>T, NM_001394507.1:c.577C>G, NM_001394511.1:c.577C>T, NM_001394511.1:c.577C>G, NM_001394504.1:c.577C>T, NM_001394504.1:c.577C>G, NM_001394503.1:c.577C>T, NM_001394503.1:c.577C>G, NM_001394512.1:c.577C>T, NM_001394512.1:c.577C>G, NM_001394514.1:c.577C>T, NM_001394514.1:c.577C>G, NM_001394515.1:c.577C>T, NM_001394515.1:c.577C>G, NM_001394516.1:c.577C>T, NM_001394516.1:c.577C>G, NP_001305838.2:p.Leu193Val, NP_001512.1:p.Leu193Val, NP_001375309.2:p.Leu193Val, NP_001030598.1:p.Leu193Val, NP_001381439.1:p.Leu193Val, XP_047299972.1:p.Leu308Val, NP_001381438.1:p.Leu193Val, NP_001381437.1:p.Leu193Val, NP_001381434.1:p.Leu193Val, NP_001381435.1:p.Leu193Val, NP_001381436.1:p.Leu193Val, NP_001381440.1:p.Leu193Val, NP_001381433.1:p.Leu193Val, NP_001381432.1:p.Leu193Val, NP_001381441.1:p.Leu193Val, NP_001381443.1:p.Leu193Val, NP_001381444.1:p.Leu193Val, NP_001381445.1:p.Leu193Val
            9.

            rs1481616731 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TGG>- [Show Flanks]
              Chromosome:
              2:27342101 (GRCh38)
              2:27564968 (GRCh37)
              Canonical SPDI:
              NC_000002.12:27342100:TGG:
              Gene:
              GTF3C2 (Varview)
              Functional Consequence:
              inframe_deletion,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              NC_000002.12:g.27342101_27342103del, NC_000002.11:g.27564968_27564970del, NM_001318909.4:c.700_702del, NM_001318909.3:c.700_702del, NM_001318909.2:c.733_735del, NM_001318909.1:c.733_735del, NM_001521.4:c.700_702del, NM_001521.3:c.700_702del, NM_001388380.3:c.700_702del, NM_001388380.2:c.700_702del, NM_001388380.1:c.817_819del, NM_001035521.3:c.700_702del, NM_001035521.2:c.700_702del, NM_001394510.1:c.700_702del, XM_047444016.1:c.1045_1047del, NM_001394509.1:c.700_702del, NM_001394508.1:c.700_702del, NM_001394505.1:c.700_702del, NM_001394506.1:c.700_702del, NM_001394507.1:c.700_702del, NM_001394511.1:c.700_702del, NM_001394504.1:c.700_702del, NM_001394503.1:c.700_702del, NM_001394512.1:c.700_702del, NM_001394514.1:c.700_702del, NM_001394515.1:c.700_702del, NM_001394516.1:c.700_702del, NP_001305838.2:p.Pro234del, NP_001512.1:p.Pro234del, NP_001375309.2:p.Pro234del, NP_001030598.1:p.Pro234del, NP_001381439.1:p.Pro234del, XP_047299972.1:p.Pro349del, NP_001381438.1:p.Pro234del, NP_001381437.1:p.Pro234del, NP_001381434.1:p.Pro234del, NP_001381435.1:p.Pro234del, NP_001381436.1:p.Pro234del, NP_001381440.1:p.Pro234del, NP_001381433.1:p.Pro234del, NP_001381432.1:p.Pro234del, NP_001381441.1:p.Pro234del, NP_001381443.1:p.Pro234del, NP_001381444.1:p.Pro234del, NP_001381445.1:p.Pro234del
              10.

              rs1479788511 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                TTTCTG>-
                Chromosome:
                no mapping
                Canonical SPDI:
                11.

                rs1479404675 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:27342875 (GRCh38)
                  2:27565742 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:27342874:C:T
                  Gene:
                  GTF3C2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (GnomAD_exomes)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000002.12:g.27342875C>T, NC_000002.11:g.27565742C>T, NM_001318909.4:c.520G>A, NM_001318909.3:c.520G>A, NM_001318909.2:c.553G>A, NM_001318909.1:c.553G>A, NM_001521.4:c.520G>A, NM_001521.3:c.520G>A, NM_001388380.3:c.520G>A, NM_001388380.2:c.520G>A, NM_001388380.1:c.637G>A, NM_001035521.3:c.520G>A, NM_001035521.2:c.520G>A, NM_001394510.1:c.520G>A, XM_047444016.1:c.865G>A, NM_001394509.1:c.520G>A, NM_001394508.1:c.520G>A, NM_001394505.1:c.520G>A, NM_001394506.1:c.520G>A, NM_001394507.1:c.520G>A, NM_001394511.1:c.520G>A, NM_001394504.1:c.520G>A, NM_001394503.1:c.520G>A, NM_001394512.1:c.520G>A, NM_001394514.1:c.520G>A, NM_001394515.1:c.520G>A, NM_001394516.1:c.520G>A, NP_001305838.2:p.Asp174Asn, NP_001512.1:p.Asp174Asn, NP_001375309.2:p.Asp174Asn, NP_001030598.1:p.Asp174Asn, NP_001381439.1:p.Asp174Asn, XP_047299972.1:p.Asp289Asn, NP_001381438.1:p.Asp174Asn, NP_001381437.1:p.Asp174Asn, NP_001381434.1:p.Asp174Asn, NP_001381435.1:p.Asp174Asn, NP_001381436.1:p.Asp174Asn, NP_001381440.1:p.Asp174Asn, NP_001381433.1:p.Asp174Asn, NP_001381432.1:p.Asp174Asn, NP_001381441.1:p.Asp174Asn, NP_001381443.1:p.Asp174Asn, NP_001381444.1:p.Asp174Asn, NP_001381445.1:p.Asp174Asn
                  12.

                  rs1478808041 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:27337323 (GRCh38)
                    2:27560190 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:27337322:G:A
                    Gene:
                    GTF3C2 (Varview), GTF3C2-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.27337323G>A, NC_000002.11:g.27560190G>A, NM_001318909.4:c.1048C>T, NM_001318909.3:c.1048C>T, NM_001318909.2:c.1081C>T, NM_001318909.1:c.1081C>T, NM_001521.4:c.1048C>T, NM_001521.3:c.1048C>T, NM_001388380.3:c.1048C>T, NM_001388380.2:c.1048C>T, NM_001388380.1:c.1165C>T, NM_001035521.3:c.1048C>T, NM_001035521.2:c.1048C>T, NM_001394510.1:c.1048C>T, XM_047444016.1:c.1393C>T, NM_001394509.1:c.1048C>T, NM_001394508.1:c.1048C>T, NM_001394505.1:c.1048C>T, NM_001394506.1:c.1048C>T, NM_001394507.1:c.1048C>T, NM_001394511.1:c.1048C>T, NM_001394504.1:c.1048C>T, NM_001394503.1:c.1048C>T, NM_001394512.1:c.1048C>T, NM_001394514.1:c.970C>T, NM_001394515.1:c.1048C>T, NM_001394516.1:c.1048C>T, NR_038427.1:n.471G>A, NP_001305838.2:p.Pro350Ser, NP_001512.1:p.Pro350Ser, NP_001375309.2:p.Pro350Ser, NP_001030598.1:p.Pro350Ser, NP_001381439.1:p.Pro350Ser, XP_047299972.1:p.Pro465Ser, NP_001381438.1:p.Pro350Ser, NP_001381437.1:p.Pro350Ser, NP_001381434.1:p.Pro350Ser, NP_001381435.1:p.Pro350Ser, NP_001381436.1:p.Pro350Ser, NP_001381440.1:p.Pro350Ser, NP_001381433.1:p.Pro350Ser, NP_001381432.1:p.Pro350Ser, NP_001381441.1:p.Pro350Ser, NP_001381443.1:p.Pro324Ser, NP_001381444.1:p.Pro350Ser, NP_001381445.1:p.Pro350Ser
                    13.

                    rs1478281754 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      2:27342867 (GRCh38)
                      2:27565734 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:27342866:C:G
                      Gene:
                      GTF3C2 (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=0.000019/5 (TOPMED)
                      G=0.000029/4 (GnomAD)
                      HGVS:
                      NC_000002.12:g.27342867C>G, NC_000002.11:g.27565734C>G, NM_001318909.4:c.528G>C, NM_001318909.3:c.528G>C, NM_001318909.2:c.561G>C, NM_001318909.1:c.561G>C, NM_001521.4:c.528G>C, NM_001521.3:c.528G>C, NM_001388380.3:c.528G>C, NM_001388380.2:c.528G>C, NM_001388380.1:c.645G>C, NM_001035521.3:c.528G>C, NM_001035521.2:c.528G>C, NM_001394510.1:c.528G>C, XM_047444016.1:c.873G>C, NM_001394509.1:c.528G>C, NM_001394508.1:c.528G>C, NM_001394505.1:c.528G>C, NM_001394506.1:c.528G>C, NM_001394507.1:c.528G>C, NM_001394511.1:c.528G>C, NM_001394504.1:c.528G>C, NM_001394503.1:c.528G>C, NM_001394512.1:c.528G>C, NM_001394514.1:c.528G>C, NM_001394515.1:c.528G>C, NM_001394516.1:c.528G>C, NP_001305838.2:p.Glu176Asp, NP_001512.1:p.Glu176Asp, NP_001375309.2:p.Glu176Asp, NP_001030598.1:p.Glu176Asp, NP_001381439.1:p.Glu176Asp, XP_047299972.1:p.Glu291Asp, NP_001381438.1:p.Glu176Asp, NP_001381437.1:p.Glu176Asp, NP_001381434.1:p.Glu176Asp, NP_001381435.1:p.Glu176Asp, NP_001381436.1:p.Glu176Asp, NP_001381440.1:p.Glu176Asp, NP_001381433.1:p.Glu176Asp, NP_001381432.1:p.Glu176Asp, NP_001381441.1:p.Glu176Asp, NP_001381443.1:p.Glu176Asp, NP_001381444.1:p.Glu176Asp, NP_001381445.1:p.Glu176Asp
                      14.

                      rs1477407900 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:27343337 (GRCh38)
                        2:27566204 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:27343336:T:C
                        Gene:
                        GTF3C2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.27343337T>C, NC_000002.11:g.27566204T>C, NM_001318909.4:c.218A>G, NM_001318909.3:c.218A>G, NM_001318909.2:c.251A>G, NM_001318909.1:c.251A>G, NM_001521.4:c.218A>G, NM_001521.3:c.218A>G, NM_001388380.3:c.218A>G, NM_001388380.2:c.218A>G, NM_001388380.1:c.335A>G, NM_001035521.3:c.218A>G, NM_001035521.2:c.218A>G, NM_001394510.1:c.218A>G, XM_047444016.1:c.563A>G, NM_001394509.1:c.218A>G, NM_001394508.1:c.218A>G, NM_001394505.1:c.218A>G, NM_001394506.1:c.218A>G, NM_001394507.1:c.218A>G, NM_001394511.1:c.218A>G, NM_001394504.1:c.218A>G, NM_001394503.1:c.218A>G, NM_001394512.1:c.218A>G, NM_001394514.1:c.218A>G, NM_001394515.1:c.218A>G, NM_001394516.1:c.218A>G, NP_001305838.2:p.Gln73Arg, NP_001512.1:p.Gln73Arg, NP_001375309.2:p.Gln73Arg, NP_001030598.1:p.Gln73Arg, NP_001381439.1:p.Gln73Arg, XP_047299972.1:p.Gln188Arg, NP_001381438.1:p.Gln73Arg, NP_001381437.1:p.Gln73Arg, NP_001381434.1:p.Gln73Arg, NP_001381435.1:p.Gln73Arg, NP_001381436.1:p.Gln73Arg, NP_001381440.1:p.Gln73Arg, NP_001381433.1:p.Gln73Arg, NP_001381432.1:p.Gln73Arg, NP_001381441.1:p.Gln73Arg, NP_001381443.1:p.Gln73Arg, NP_001381444.1:p.Gln73Arg, NP_001381445.1:p.Gln73Arg
                        15.

                        rs1472725772 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          2:27343073 (GRCh38)
                          2:27565940 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:27343072:G:A,NC_000002.12:27343072:G:C
                          Gene:
                          GTF3C2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,stop_gained,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.27343073G>A, NC_000002.12:g.27343073G>C, NC_000002.11:g.27565940G>A, NC_000002.11:g.27565940G>C, NM_001318909.4:c.322C>T, NM_001318909.4:c.322C>G, NM_001318909.3:c.322C>T, NM_001318909.3:c.322C>G, NM_001318909.2:c.355C>T, NM_001318909.2:c.355C>G, NM_001318909.1:c.355C>T, NM_001318909.1:c.355C>G, NM_001521.4:c.322C>T, NM_001521.4:c.322C>G, NM_001521.3:c.322C>T, NM_001521.3:c.322C>G, NM_001388380.3:c.322C>T, NM_001388380.3:c.322C>G, NM_001388380.2:c.322C>T, NM_001388380.2:c.322C>G, NM_001388380.1:c.439C>T, NM_001388380.1:c.439C>G, NM_001035521.3:c.322C>T, NM_001035521.3:c.322C>G, NM_001035521.2:c.322C>T, NM_001035521.2:c.322C>G, NM_001394510.1:c.322C>T, NM_001394510.1:c.322C>G, XM_047444016.1:c.667C>T, XM_047444016.1:c.667C>G, NM_001394509.1:c.322C>T, NM_001394509.1:c.322C>G, NM_001394508.1:c.322C>T, NM_001394508.1:c.322C>G, NM_001394505.1:c.322C>T, NM_001394505.1:c.322C>G, NM_001394506.1:c.322C>T, NM_001394506.1:c.322C>G, NM_001394507.1:c.322C>T, NM_001394507.1:c.322C>G, NM_001394511.1:c.322C>T, NM_001394511.1:c.322C>G, NM_001394504.1:c.322C>T, NM_001394504.1:c.322C>G, NM_001394503.1:c.322C>T, NM_001394503.1:c.322C>G, NM_001394512.1:c.322C>T, NM_001394512.1:c.322C>G, NM_001394514.1:c.322C>T, NM_001394514.1:c.322C>G, NM_001394515.1:c.322C>T, NM_001394515.1:c.322C>G, NM_001394516.1:c.322C>T, NM_001394516.1:c.322C>G, NP_001305838.2:p.Arg108Ter, NP_001305838.2:p.Arg108Gly, NP_001512.1:p.Arg108Ter, NP_001512.1:p.Arg108Gly, NP_001375309.2:p.Arg108Ter, NP_001375309.2:p.Arg108Gly, NP_001030598.1:p.Arg108Ter, NP_001030598.1:p.Arg108Gly, NP_001381439.1:p.Arg108Ter, NP_001381439.1:p.Arg108Gly, XP_047299972.1:p.Arg223Ter, XP_047299972.1:p.Arg223Gly, NP_001381438.1:p.Arg108Ter, NP_001381438.1:p.Arg108Gly, NP_001381437.1:p.Arg108Ter, NP_001381437.1:p.Arg108Gly, NP_001381434.1:p.Arg108Ter, NP_001381434.1:p.Arg108Gly, NP_001381435.1:p.Arg108Ter, NP_001381435.1:p.Arg108Gly, NP_001381436.1:p.Arg108Ter, NP_001381436.1:p.Arg108Gly, NP_001381440.1:p.Arg108Ter, NP_001381440.1:p.Arg108Gly, NP_001381433.1:p.Arg108Ter, NP_001381433.1:p.Arg108Gly, NP_001381432.1:p.Arg108Ter, NP_001381432.1:p.Arg108Gly, NP_001381441.1:p.Arg108Ter, NP_001381441.1:p.Arg108Gly, NP_001381443.1:p.Arg108Ter, NP_001381443.1:p.Arg108Gly, NP_001381444.1:p.Arg108Ter, NP_001381444.1:p.Arg108Gly, NP_001381445.1:p.Arg108Ter, NP_001381445.1:p.Arg108Gly
                          16.

                          rs1472041710 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:27335664 (GRCh38)
                            2:27558531 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:27335663:A:C
                            Gene:
                            GTF3C2 (Varview), GTF3C2-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.27335664A>C, NC_000002.11:g.27558531A>C, NM_001318909.4:c.1510T>G, NM_001318909.3:c.1510T>G, NM_001318909.2:c.1543T>G, NM_001318909.1:c.1543T>G, NM_001521.4:c.1510T>G, NM_001521.3:c.1510T>G, NM_001388380.3:c.1510T>G, NM_001388380.2:c.1510T>G, NM_001388380.1:c.1627T>G, NM_001035521.3:c.1510T>G, NM_001035521.2:c.1510T>G, NM_001394510.1:c.1510T>G, XM_047444016.1:c.1855T>G, NM_001394509.1:c.1510T>G, NM_001394508.1:c.1510T>G, NM_001394505.1:c.1510T>G, NM_001394506.1:c.1510T>G, NM_001394507.1:c.1510T>G, NM_001394511.1:c.1510T>G, NM_001394504.1:c.1510T>G, NM_001394503.1:c.1510T>G, NM_001394512.1:c.1498T>G, NM_001394514.1:c.1432T>G, NM_001394515.1:c.1510T>G, NM_001394516.1:c.1282T>G, NR_038427.1:n.123A>C, NP_001305838.2:p.Ser504Ala, NP_001512.1:p.Ser504Ala, NP_001375309.2:p.Ser504Ala, NP_001030598.1:p.Ser504Ala, NP_001381439.1:p.Ser504Ala, XP_047299972.1:p.Ser619Ala, NP_001381438.1:p.Ser504Ala, NP_001381437.1:p.Ser504Ala, NP_001381434.1:p.Ser504Ala, NP_001381435.1:p.Ser504Ala, NP_001381436.1:p.Ser504Ala, NP_001381440.1:p.Ser504Ala, NP_001381433.1:p.Ser504Ala, NP_001381432.1:p.Ser504Ala, NP_001381441.1:p.Ser500Ala, NP_001381443.1:p.Ser478Ala, NP_001381444.1:p.Ser504Ala, NP_001381445.1:p.Ser428Ala
                            20.

                            Display Settings:

                            Format
                            Items per page
                            Sort by

                            Send to:

                            Choose Destination

                            Supplemental Content

                            Find related data

                            Recent activity

                            Your browsing activity is empty.

                            Activity recording is turned off.

                            Turn recording back on

                            See more...