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Items: 1 to 20 of 181

2.

rs1479626735 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    16:27828827 (GRCh38)
    16:27840148 (GRCh37)
    Canonical SPDI:
    NC_000016.10:27828826:G:T
    Gene:
    GSG1L (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.

    rs1473472695 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:27791387 (GRCh38)
      16:27802708 (GRCh37)
      Canonical SPDI:
      NC_000016.10:27791386:A:G
      Gene:
      GSG1L (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      4.

      rs1472301758 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:27884555 (GRCh38)
        16:27895876 (GRCh37)
        Canonical SPDI:
        NC_000016.10:27884554:A:G
        Gene:
        GSG1L (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:
        6.

        rs1464031823 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          16:27791378 (GRCh38)
          16:27802699 (GRCh37)
          Canonical SPDI:
          NC_000016.10:27791377:A:G
          Gene:
          GSG1L (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          HGVS:
          8.
          9.

          rs1438456180 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            16:27845038 (GRCh38)
            16:27856359 (GRCh37)
            Canonical SPDI:
            NC_000016.10:27845037:T:C,NC_000016.10:27845037:T:G
            Gene:
            GSG1L (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000028/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000016.10:g.27845038T>C, NC_000016.10:g.27845038T>G, NC_000016.9:g.27856359T>C, NC_000016.9:g.27856359T>G, NM_144675.3:c.109A>G, NM_144675.3:c.109A>C, NM_144675.2:c.109A>G, NM_144675.2:c.109A>C, XM_011545750.3:c.574A>G, XM_011545750.3:c.574A>C, XM_011545750.2:c.574A>G, XM_011545750.2:c.574A>C, XM_011545750.1:c.574A>G, XM_011545750.1:c.574A>C, XM_011545751.3:c.574A>G, XM_011545751.3:c.574A>C, XM_011545751.2:c.574A>G, XM_011545751.2:c.574A>C, XM_011545751.1:c.574A>G, XM_011545751.1:c.574A>C, NM_001323900.2:c.574A>G, NM_001323900.2:c.574A>C, NM_001323900.1:c.574A>G, NM_001323900.1:c.574A>C, NM_001109763.2:c.574A>G, NM_001109763.2:c.574A>C, NM_001109763.1:c.574A>G, NM_001109763.1:c.574A>C, NM_001323901.2:c.421A>G, NM_001323901.2:c.421A>C, NM_001323901.1:c.421A>G, NM_001323901.1:c.421A>C, NP_653276.1:p.Met37Val, NP_653276.1:p.Met37Leu, XP_011544052.1:p.Met192Val, XP_011544052.1:p.Met192Leu, XP_011544053.1:p.Met192Val, XP_011544053.1:p.Met192Leu, NP_001310829.1:p.Met192Val, NP_001310829.1:p.Met192Leu, NP_001103233.1:p.Met192Val, NP_001103233.1:p.Met192Leu, NP_001310830.1:p.Met141Val, NP_001310830.1:p.Met141Leu
            10.

            rs1430921209 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:27791439 (GRCh38)
              16:27802760 (GRCh37)
              Canonical SPDI:
              NC_000016.10:27791438:C:T
              Gene:
              GSG1L (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
              HGVS:
              11.
              14.

              rs1422848626 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:27845030 (GRCh38)
                16:27856351 (GRCh37)
                Canonical SPDI:
                NC_000016.10:27845029:G:A
                Gene:
                GSG1L (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                15.

                rs1421014654 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:27884508 (GRCh38)
                  16:27895829 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:27884507:C:T
                  Gene:
                  GSG1L (Varview)
                  Functional Consequence:
                  synonymous_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0./0 (GnomAD)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  16.

                  rs1417035782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:27828854 (GRCh38)
                    16:27840175 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:27828853:A:G
                    Gene:
                    GSG1L (Varview)
                    Functional Consequence:
                    synonymous_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    17.

                    rs1414452662 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      16:27791390 (GRCh38)
                      16:27802711 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:27791389:C:A
                      Gene:
                      GSG1L (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      18.

                      rs1406166207 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:27845021 (GRCh38)
                        16:27856342 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:27845020:C:T
                        Gene:
                        GSG1L (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0./0 (GnomAD)
                        HGVS:
                        19.

                        rs1405863459 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:27791394 (GRCh38)
                          16:27802715 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:27791393:G:A
                          Gene:
                          GSG1L (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          HGVS:
                          20.

                          rs1389466625 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:27791450 (GRCh38)
                            16:27802771 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:27791449:C:T
                            Gene:
                            GSG1L (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:

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