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Items: 1 to 20 of 672

1.

rs1490841354 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    9:76169741 (GRCh38)
    9:78784657 (GRCh37)
    Canonical SPDI:
    NC_000009.12:76169740:G:A,NC_000009.12:76169740:G:C
    Gene:
    PCSK5 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.76169741G>A, NC_000009.12:g.76169741G>C, NC_000009.11:g.78784657G>A, NC_000009.11:g.78784657G>C, NG_029445.1:g.284098G>A, NG_029445.1:g.284098G>C, NM_006200.6:c.1657G>A, NM_006200.6:c.1657G>C, NM_006200.5:c.1657G>A, NM_006200.5:c.1657G>C, NM_006200.4:c.1657G>A, NM_006200.4:c.1657G>C, NM_006200.3:c.1657G>A, NM_006200.3:c.1657G>C, NM_001190482.2:c.1657G>A, NM_001190482.2:c.1657G>C, NM_001190482.1:c.1657G>A, NM_001190482.1:c.1657G>C, NR_120409.2:n.2062G>A, NR_120409.2:n.2062G>C, NR_120409.1:n.2091G>A, NR_120409.1:n.2091G>C, NM_001372043.1:c.1657G>A, NM_001372043.1:c.1657G>C, XM_011518769.4:c.1657G>A, XM_011518769.4:c.1657G>C, XM_011518769.3:c.1657G>A, XM_011518769.3:c.1657G>C, XM_011518769.2:c.1657G>A, XM_011518769.2:c.1657G>C, XM_011518769.1:c.1657G>A, XM_011518769.1:c.1657G>C, XM_011518770.3:c.319G>A, XM_011518770.3:c.319G>C, XM_011518770.2:c.319G>A, XM_011518770.2:c.319G>C, XM_011518770.1:c.319G>A, XM_011518770.1:c.319G>C, XM_047423454.1:c.1372G>A, XM_047423454.1:c.1372G>C, XM_047423455.1:c.1657G>A, XM_047423455.1:c.1657G>C, XM_047423456.1:c.1657G>A, XM_047423456.1:c.1657G>C, NP_006191.2:p.Glu553Lys, NP_006191.2:p.Glu553Gln, NP_001177411.1:p.Glu553Lys, NP_001177411.1:p.Glu553Gln, NP_001358972.1:p.Glu553Lys, NP_001358972.1:p.Glu553Gln, XP_011517071.1:p.Glu553Lys, XP_011517071.1:p.Glu553Gln, XP_011517072.1:p.Glu107Lys, XP_011517072.1:p.Glu107Gln, XP_047279410.1:p.Glu458Lys, XP_047279410.1:p.Glu458Gln, XP_047279411.1:p.Glu553Lys, XP_047279411.1:p.Glu553Gln, XP_047279412.1:p.Glu553Lys, XP_047279412.1:p.Glu553Gln

    2.

    rs1489272251 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:75891319 (GRCh38)
      9:78506235 (GRCh37)
      Canonical SPDI:
      NC_000009.12:75891318:C:T
      Gene:
      PCSK5 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      HGVS:

      3.

      rs1488838308 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:76175092 (GRCh38)
        9:78790008 (GRCh37)
        Canonical SPDI:
        NC_000009.12:76175091:A:G
        Gene:
        PCSK5 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1488775142 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          9:76175009 (GRCh38)
          9:78789925 (GRCh37)
          Canonical SPDI:
          NC_000009.12:76175008:G:A,NC_000009.12:76175008:G:C
          Gene:
          PCSK5 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000009.12:g.76175009G>A, NC_000009.12:g.76175009G>C, NC_000009.11:g.78789925G>A, NC_000009.11:g.78789925G>C, NG_029445.1:g.289366G>A, NG_029445.1:g.289366G>C, NM_006200.6:c.1780G>A, NM_006200.6:c.1780G>C, NM_006200.5:c.1780G>A, NM_006200.5:c.1780G>C, NM_006200.4:c.1780G>A, NM_006200.4:c.1780G>C, NM_006200.3:c.1780G>A, NM_006200.3:c.1780G>C, NM_001190482.2:c.1780G>A, NM_001190482.2:c.1780G>C, NM_001190482.1:c.1780G>A, NM_001190482.1:c.1780G>C, NR_120409.2:n.2185G>A, NR_120409.2:n.2185G>C, NR_120409.1:n.2214G>A, NR_120409.1:n.2214G>C, NM_001372043.1:c.1780G>A, NM_001372043.1:c.1780G>C, XM_011518769.4:c.1780G>A, XM_011518769.4:c.1780G>C, XM_011518769.3:c.1780G>A, XM_011518769.3:c.1780G>C, XM_011518769.2:c.1780G>A, XM_011518769.2:c.1780G>C, XM_011518769.1:c.1780G>A, XM_011518769.1:c.1780G>C, XM_011518770.3:c.442G>A, XM_011518770.3:c.442G>C, XM_011518770.2:c.442G>A, XM_011518770.2:c.442G>C, XM_011518770.1:c.442G>A, XM_011518770.1:c.442G>C, XM_047423454.1:c.1495G>A, XM_047423454.1:c.1495G>C, XM_047423455.1:c.1780G>A, XM_047423455.1:c.1780G>C, XM_047423456.1:c.1780G>A, XM_047423456.1:c.1780G>C, NP_006191.2:p.Val594Ile, NP_006191.2:p.Val594Leu, NP_001177411.1:p.Val594Ile, NP_001177411.1:p.Val594Leu, NP_001358972.1:p.Val594Ile, NP_001358972.1:p.Val594Leu, XP_011517071.1:p.Val594Ile, XP_011517071.1:p.Val594Leu, XP_011517072.1:p.Val148Ile, XP_011517072.1:p.Val148Leu, XP_047279410.1:p.Val499Ile, XP_047279410.1:p.Val499Leu, XP_047279411.1:p.Val594Ile, XP_047279411.1:p.Val594Leu, XP_047279412.1:p.Val594Ile, XP_047279412.1:p.Val594Leu

          5.

          rs1486664045 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            9:76179669 (GRCh38)
            9:78794585 (GRCh37)
            Canonical SPDI:
            NC_000009.12:76179668:C:G
            Gene:
            PCSK5 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.00007/1 (ALFA)
            HGVS:

            6.

            rs1484123101 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              9:76188594 (GRCh38)
              9:78803510 (GRCh37)
              Canonical SPDI:
              NC_000009.12:76188593:T:G
              Gene:
              PCSK5 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1483109230 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:76181466 (GRCh38)
                9:78796382 (GRCh37)
                Canonical SPDI:
                NC_000009.12:76181465:C:T
                Gene:
                PCSK5 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                HGVS:

                8.

                rs1482519543 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:76181548 (GRCh38)
                  9:78796464 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:76181547:C:T
                  Gene:
                  PCSK5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1482448749 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:76175069 (GRCh38)
                    9:78789985 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:76175068:C:T
                    Gene:
                    PCSK5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    T=0.000012/3 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1481237535 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:76175049 (GRCh38)
                      9:78789965 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:76175048:A:G
                      Gene:
                      PCSK5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1480247301 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        9:75891247 (GRCh38)
                        9:78506163 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:75891246:C:A,NC_000009.12:75891246:C:T
                        Gene:
                        PCSK5 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000224/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        A=0.000035/1 (TOMMO)
                        T=0.000223/1 (Estonian)
                        HGVS:
                        NC_000009.12:g.75891247C>A, NC_000009.12:g.75891247C>T, NC_000009.11:g.78506163C>A, NC_000009.11:g.78506163C>T, NG_029445.1:g.5604C>A, NG_029445.1:g.5604C>T, NM_006200.6:c.66C>A, NM_006200.6:c.66C>T, NM_006200.5:c.66C>A, NM_006200.5:c.66C>T, NM_006200.4:c.66C>A, NM_006200.4:c.66C>T, NM_006200.3:c.66C>A, NM_006200.3:c.66C>T, NM_001190482.2:c.66C>A, NM_001190482.2:c.66C>T, NM_001190482.1:c.66C>A, NM_001190482.1:c.66C>T, NR_120409.2:n.575C>A, NR_120409.2:n.575C>T, NR_120409.1:n.604C>A, NR_120409.1:n.604C>T, NM_001372043.1:c.66C>A, NM_001372043.1:c.66C>T, XM_011518769.4:c.66C>A, XM_011518769.4:c.66C>T, XM_011518769.3:c.66C>A, XM_011518769.3:c.66C>T, XM_011518769.2:c.66C>A, XM_011518769.2:c.66C>T, XM_011518769.1:c.66C>A, XM_011518769.1:c.66C>T, XM_047423455.1:c.66C>A, XM_047423455.1:c.66C>T, XM_047423456.1:c.66C>A, XM_047423456.1:c.66C>T

                        12.

                        rs1478523312 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          9:76071788 (GRCh38)
                          9:78686704 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:76071787:C:A,NC_000009.12:76071787:C:G
                          Gene:
                          PCSK5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                          HGVS:
                          NC_000009.12:g.76071788C>A, NC_000009.12:g.76071788C>G, NC_000009.11:g.78686704C>A, NC_000009.11:g.78686704C>G, NG_029445.1:g.186145C>A, NG_029445.1:g.186145C>G, NM_006200.6:c.784C>A, NM_006200.6:c.784C>G, NM_006200.5:c.784C>A, NM_006200.5:c.784C>G, NM_006200.4:c.784C>A, NM_006200.4:c.784C>G, NM_006200.3:c.784C>A, NM_006200.3:c.784C>G, NM_001190482.2:c.784C>A, NM_001190482.2:c.784C>G, NM_001190482.1:c.784C>A, NM_001190482.1:c.784C>G, NR_120409.2:n.1293C>A, NR_120409.2:n.1293C>G, NR_120409.1:n.1322C>A, NR_120409.1:n.1322C>G, NM_001372043.1:c.784C>A, NM_001372043.1:c.784C>G, XM_011518769.4:c.784C>A, XM_011518769.4:c.784C>G, XM_011518769.3:c.784C>A, XM_011518769.3:c.784C>G, XM_011518769.2:c.784C>A, XM_011518769.2:c.784C>G, XM_011518769.1:c.784C>A, XM_011518769.1:c.784C>G, XM_047423454.1:c.499C>A, XM_047423454.1:c.499C>G, XM_047423455.1:c.784C>A, XM_047423455.1:c.784C>G, XM_047423456.1:c.784C>A, XM_047423456.1:c.784C>G, NP_006191.2:p.Pro262Thr, NP_006191.2:p.Pro262Ala, NP_001177411.1:p.Pro262Thr, NP_001177411.1:p.Pro262Ala, NP_001358972.1:p.Pro262Thr, NP_001358972.1:p.Pro262Ala, XP_011517071.1:p.Pro262Thr, XP_011517071.1:p.Pro262Ala, XP_047279410.1:p.Pro167Thr, XP_047279410.1:p.Pro167Ala, XP_047279411.1:p.Pro262Thr, XP_047279411.1:p.Pro262Ala, XP_047279412.1:p.Pro262Thr, XP_047279412.1:p.Pro262Ala

                          13.

                          rs1476716388 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            9:76096093 (GRCh38)
                            9:78711009 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:76096092:T:C
                            Gene:
                            PCSK5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000224/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000446/2 (Estonian)
                            HGVS:

                            14.

                            rs1476401212 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:76189150 (GRCh38)
                              9:78804066 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:76189149:A:G
                              Gene:
                              PCSK5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1474156041 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                9:76159002 (GRCh38)
                                9:78773918 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:76159001:G:T
                                Gene:
                                PCSK5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1473544124 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  9:76189103 (GRCh38)
                                  9:78804019 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:76189102:C:G
                                  Gene:
                                  PCSK5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000008/2 (GnomAD_exomes)
                                  G=0.000684/2 (KOREAN)
                                  HGVS:

                                  17.

                                  rs1471344972 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:76193337 (GRCh38)
                                    9:78808253 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:76193336:T:C
                                    Gene:
                                    PCSK5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000008/2 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1471112408 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:76095963 (GRCh38)
                                      9:78710879 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:76095962:G:A
                                      Gene:
                                      PCSK5 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1468054545 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:76174999 (GRCh38)
                                        9:78789915 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:76174998:A:G
                                        Gene:
                                        PCSK5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1464420913 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:76181493 (GRCh38)
                                          9:78796409 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:76181492:A:G
                                          Gene:
                                          PCSK5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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