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Links from Nucleotide

Items: 1 to 20 of 5363

5.
6.

rs1489756253 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:21898466 (GRCh38)
    1:22224959 (GRCh37)
    Canonical SPDI:
    NC_000001.11:21898465:G:A
    Gene:
    HSPG2 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    13.

    rs1488793103 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      1:21839897 (GRCh38)
      1:22166390 (GRCh37)
      Canonical SPDI:
      NC_000001.11:21839896:G:C,NC_000001.11:21839896:G:T
      Gene:
      HSPG2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000001.11:g.21839897G>C, NC_000001.11:g.21839897G>T, NC_000001.10:g.22166390G>C, NC_000001.10:g.22166390G>T, NG_016740.1:g.102361C>G, NG_016740.1:g.102361C>A, NM_005529.7:c.9634C>G, NM_005529.7:c.9634C>A, NM_005529.6:c.9634C>G, NM_005529.6:c.9634C>A, NM_005529.5:c.9634C>G, NM_005529.5:c.9634C>A, NM_001291860.2:c.9637C>G, NM_001291860.2:c.9637C>A, NM_001291860.1:c.9637C>G, NM_001291860.1:c.9637C>A, XM_011541318.3:c.10183C>G, XM_011541318.3:c.10183C>A, XM_011541318.2:c.10183C>G, XM_011541318.2:c.10183C>A, XM_011541318.1:c.10183C>G, XM_011541318.1:c.10183C>A, XM_047419080.1:c.10132C>G, XM_047419080.1:c.10132C>A, XM_047419090.1:c.10129C>G, XM_047419090.1:c.10129C>A, XM_017001120.1:c.9829C>G, XM_017001120.1:c.9829C>A, XM_047419091.1:c.9826C>G, XM_047419091.1:c.9826C>A, XM_017001121.1:c.9778C>G, XM_017001121.1:c.9778C>A, XM_017001122.1:c.9775C>G, XM_017001122.1:c.9775C>A, NP_005520.4:p.Pro3212Ala, NP_005520.4:p.Pro3212Thr, NP_001278789.1:p.Pro3213Ala, NP_001278789.1:p.Pro3213Thr, XP_011539620.1:p.Pro3395Ala, XP_011539620.1:p.Pro3395Thr, XP_047275036.1:p.Pro3378Ala, XP_047275036.1:p.Pro3378Thr, XP_047275046.1:p.Pro3377Ala, XP_047275046.1:p.Pro3377Thr, XP_016856609.1:p.Pro3277Ala, XP_016856609.1:p.Pro3277Thr, XP_047275047.1:p.Pro3276Ala, XP_047275047.1:p.Pro3276Thr, XP_016856610.1:p.Pro3260Ala, XP_016856610.1:p.Pro3260Thr, XP_016856611.1:p.Pro3259Ala, XP_016856611.1:p.Pro3259Thr
      15.
      17.
      18.

      rs1487899814 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        1:21865747 (GRCh38)
        1:22192240 (GRCh37)
        Canonical SPDI:
        NC_000001.11:21865746:G:A,NC_000001.11:21865746:G:C
        Gene:
        HSPG2 (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000001.11:g.21865747G>A, NC_000001.11:g.21865747G>C, NC_000001.10:g.22192240G>A, NC_000001.10:g.22192240G>C, NG_016740.1:g.76511C>T, NG_016740.1:g.76511C>G, NM_005529.7:c.4284C>T, NM_005529.7:c.4284C>G, NM_005529.6:c.4284C>T, NM_005529.6:c.4284C>G, NM_005529.5:c.4284C>T, NM_005529.5:c.4284C>G, NM_001291860.2:c.4287C>T, NM_001291860.2:c.4287C>G, NM_001291860.1:c.4287C>T, NM_001291860.1:c.4287C>G, XM_011541318.3:c.4833C>T, XM_011541318.3:c.4833C>G, XM_011541318.2:c.4833C>T, XM_011541318.2:c.4833C>G, XM_011541318.1:c.4833C>T, XM_011541318.1:c.4833C>G, XM_047419080.1:c.4782C>T, XM_047419080.1:c.4782C>G, XM_047419090.1:c.4779C>T, XM_047419090.1:c.4779C>G, XM_017001120.1:c.4479C>T, XM_017001120.1:c.4479C>G, XM_047419091.1:c.4476C>T, XM_047419091.1:c.4476C>G, XM_017001121.1:c.4428C>T, XM_017001121.1:c.4428C>G, XM_017001122.1:c.4425C>T, XM_017001122.1:c.4425C>G, NP_005520.4:p.Ser1428Arg, NP_001278789.1:p.Ser1429Arg, XP_011539620.1:p.Ser1611Arg, XP_047275036.1:p.Ser1594Arg, XP_047275046.1:p.Ser1593Arg, XP_016856609.1:p.Ser1493Arg, XP_047275047.1:p.Ser1492Arg, XP_016856610.1:p.Ser1476Arg, XP_016856611.1:p.Ser1475Arg
        20.

        rs1487482980 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          1:21854634 (GRCh38)
          1:22181127 (GRCh37)
          Canonical SPDI:
          NC_000001.11:21854633:C:A,NC_000001.11:21854633:C:G,NC_000001.11:21854633:C:T
          Gene:
          HSPG2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          T=0.000005/1 (GnomAD_exomes)
          G=0.000342/1 (KOREAN)
          G=0.001092/2 (Korea1K)
          HGVS:
          NC_000001.11:g.21854634C>A, NC_000001.11:g.21854634C>G, NC_000001.11:g.21854634C>T, NC_000001.10:g.22181127C>A, NC_000001.10:g.22181127C>G, NC_000001.10:g.22181127C>T, NG_016740.1:g.87624G>T, NG_016740.1:g.87624G>C, NG_016740.1:g.87624G>A, NM_005529.7:c.6265G>T, NM_005529.7:c.6265G>C, NM_005529.7:c.6265G>A, NM_005529.6:c.6265G>T, NM_005529.6:c.6265G>C, NM_005529.6:c.6265G>A, NM_005529.5:c.6265G>T, NM_005529.5:c.6265G>C, NM_005529.5:c.6265G>A, NM_001291860.2:c.6268G>T, NM_001291860.2:c.6268G>C, NM_001291860.2:c.6268G>A, NM_001291860.1:c.6268G>T, NM_001291860.1:c.6268G>C, NM_001291860.1:c.6268G>A, XM_011541318.3:c.6814G>T, XM_011541318.3:c.6814G>C, XM_011541318.3:c.6814G>A, XM_011541318.2:c.6814G>T, XM_011541318.2:c.6814G>C, XM_011541318.2:c.6814G>A, XM_011541318.1:c.6814G>T, XM_011541318.1:c.6814G>C, XM_011541318.1:c.6814G>A, XM_047419080.1:c.6763G>T, XM_047419080.1:c.6763G>C, XM_047419080.1:c.6763G>A, XM_047419090.1:c.6760G>T, XM_047419090.1:c.6760G>C, XM_047419090.1:c.6760G>A, XM_017001120.1:c.6460G>T, XM_017001120.1:c.6460G>C, XM_017001120.1:c.6460G>A, XM_047419091.1:c.6457G>T, XM_047419091.1:c.6457G>C, XM_047419091.1:c.6457G>A, XM_017001121.1:c.6409G>T, XM_017001121.1:c.6409G>C, XM_017001121.1:c.6409G>A, XM_017001122.1:c.6406G>T, XM_017001122.1:c.6406G>C, XM_017001122.1:c.6406G>A, NP_005520.4:p.Gly2089Cys, NP_005520.4:p.Gly2089Arg, NP_005520.4:p.Gly2089Ser, NP_001278789.1:p.Gly2090Cys, NP_001278789.1:p.Gly2090Arg, NP_001278789.1:p.Gly2090Ser, XP_011539620.1:p.Gly2272Cys, XP_011539620.1:p.Gly2272Arg, XP_011539620.1:p.Gly2272Ser, XP_047275036.1:p.Gly2255Cys, XP_047275036.1:p.Gly2255Arg, XP_047275036.1:p.Gly2255Ser, XP_047275046.1:p.Gly2254Cys, XP_047275046.1:p.Gly2254Arg, XP_047275046.1:p.Gly2254Ser, XP_016856609.1:p.Gly2154Cys, XP_016856609.1:p.Gly2154Arg, XP_016856609.1:p.Gly2154Ser, XP_047275047.1:p.Gly2153Cys, XP_047275047.1:p.Gly2153Arg, XP_047275047.1:p.Gly2153Ser, XP_016856610.1:p.Gly2137Cys, XP_016856610.1:p.Gly2137Arg, XP_016856610.1:p.Gly2137Ser, XP_016856611.1:p.Gly2136Cys, XP_016856611.1:p.Gly2136Arg, XP_016856611.1:p.Gly2136Ser

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