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Links from Protein

Items: 1 to 20 of 225

1.

rs1483188834 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:1624198 (GRCh38)
    6:1624433 (GRCh37)
    Canonical SPDI:
    NC_000006.12:1624197:C:T
    Gene:
    GMDS (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    3.

    rs1473879648 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:1960785 (GRCh38)
      6:1961019 (GRCh37)
      Canonical SPDI:
      NC_000006.12:1960784:C:T
      Gene:
      GMDS (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      T=0.000011/3 (TOPMED)
      HGVS:
      NC_000006.12:g.1960785C>T, NC_000006.11:g.1961019C>T, XM_011514503.4:c.527G>A, XM_011514503.3:c.527G>A, XM_011514503.2:c.527G>A, XM_011514503.1:c.527G>A, XM_006715066.4:c.527G>A, XM_006715066.3:c.527G>A, XM_006715066.2:c.527G>A, XM_006715066.1:c.527G>A, XM_011514502.4:c.527G>A, XM_011514502.3:c.527G>A, XM_011514502.2:c.527G>A, XM_011514502.1:c.527G>A, NM_001500.4:c.527G>A, NM_001500.3:c.527G>A, XM_011514505.3:c.527G>A, XM_011514505.2:c.527G>A, XM_011514505.1:c.527G>A, XM_011514506.3:c.527G>A, XM_011514506.2:c.527G>A, XM_011514506.1:c.527G>A, XM_011514507.3:c.527G>A, XM_011514507.2:c.527G>A, XM_011514507.1:c.527G>A, XM_011514500.2:c.437G>A, XM_011514500.1:c.437G>A, NM_001253846.2:c.437G>A, NM_001253846.1:c.437G>A, XM_017010752.2:c.266G>A, XM_017010752.1:c.266G>A, XM_047418655.1:c.527G>A, XR_007059239.1:n.710G>A, XP_011512805.1:p.Arg176Gln, XP_006715129.1:p.Arg176Gln, XP_011512804.1:p.Arg176Gln, NP_001491.1:p.Arg176Gln, XP_011512807.1:p.Arg176Gln, XP_011512808.1:p.Arg176Gln, XP_011512809.1:p.Arg176Gln, XP_011512802.1:p.Arg146Gln, NP_001240775.1:p.Arg146Gln, XP_016866241.1:p.Arg89Gln, XP_047274611.1:p.Arg176Gln
      8.

      rs1454211122 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:1624172 (GRCh38)
        6:1624407 (GRCh37)
        Canonical SPDI:
        NC_000006.12:1624171:G:A
        Gene:
        GMDS (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.00005/1 (ALFA)
        HGVS:
        9.
        10.

        rs1453022801 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          6:1742578 (GRCh38)
          6:1742812 (GRCh37)
          Canonical SPDI:
          NC_000006.12:1742577:C:A,NC_000006.12:1742577:C:G
          Gene:
          GMDS (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000006.12:g.1742578C>A, NC_000006.12:g.1742578C>G, NC_000006.11:g.1742812C>A, NC_000006.11:g.1742812C>G, XM_011514502.4:c.780G>T, XM_011514502.4:c.780G>C, XM_011514502.3:c.780G>T, XM_011514502.3:c.780G>C, XM_011514502.2:c.780G>T, XM_011514502.2:c.780G>C, XM_011514502.1:c.780G>T, XM_011514502.1:c.780G>C, NM_001500.4:c.780G>T, NM_001500.4:c.780G>C, NM_001500.3:c.780G>T, NM_001500.3:c.780G>C, XM_011514507.3:c.652G>T, XM_011514507.3:c.652G>C, XM_011514507.2:c.652G>T, XM_011514507.2:c.652G>C, XM_011514507.1:c.652G>T, XM_011514507.1:c.652G>C, XM_011514500.2:c.690G>T, XM_011514500.2:c.690G>C, XM_011514500.1:c.690G>T, XM_011514500.1:c.690G>C, NM_001253846.2:c.690G>T, NM_001253846.2:c.690G>C, NM_001253846.1:c.690G>T, NM_001253846.1:c.690G>C, XM_017010752.2:c.519G>T, XM_017010752.2:c.519G>C, XM_017010752.1:c.519G>T, XM_017010752.1:c.519G>C, XM_047418655.1:c.780G>T, XM_047418655.1:c.780G>C, XP_011512804.1:p.Trp260Cys, XP_011512804.1:p.Trp260Cys, NP_001491.1:p.Trp260Cys, NP_001491.1:p.Trp260Cys, XP_011512809.1:p.Val218Phe, XP_011512809.1:p.Val218Leu, XP_011512802.1:p.Trp230Cys, XP_011512802.1:p.Trp230Cys, NP_001240775.1:p.Trp230Cys, NP_001240775.1:p.Trp230Cys, XP_016866241.1:p.Trp173Cys, XP_016866241.1:p.Trp173Cys, XP_047274611.1:p.Trp260Cys, XP_047274611.1:p.Trp260Cys
          14.

          rs1435711399 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            6:1624499 (GRCh38)
            6:1624734 (GRCh37)
            Canonical SPDI:
            NC_000006.12:1624498:C:A
            Gene:
            GMDS (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            16.

            rs1423734163 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:2034832 (GRCh38)
              6:2035066 (GRCh37)
              Canonical SPDI:
              NC_000006.12:2034831:A:G
              Gene:
              GMDS (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              18.

              rs1415845461 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:1930166 (GRCh38)
                6:1930400 (GRCh37)
                Canonical SPDI:
                NC_000006.12:1930165:T:C
                Gene:
                GMDS (Varview)
                Functional Consequence:
                intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000008/2 (TOPMED)
                HGVS:

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