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Items: 1 to 20 of 731

1.

rs1487509795 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:206937587 (GRCh38)
    1:207110932 (GRCh37)
    Canonical SPDI:
    NC_000001.11:206937586:G:A
    Gene:
    PIGR (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487109329 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      1:206937582 (GRCh38)
      1:207110927 (GRCh37)
      Canonical SPDI:
      NC_000001.11:206937581:G:C,NC_000001.11:206937581:G:T
      Gene:
      PIGR (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1485041012 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:206931686 (GRCh38)
        1:207105031 (GRCh37)
        Canonical SPDI:
        NC_000001.11:206931685:G:C
        Gene:
        PIGR (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1484459506 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:206939257 (GRCh38)
          1:207112602 (GRCh37)
          Canonical SPDI:
          NC_000001.11:206939256:G:A
          Gene:
          PIGR (Varview)
          Functional Consequence:
          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:
          5.

          rs1479149080 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:206939180 (GRCh38)
            1:207112525 (GRCh37)
            Canonical SPDI:
            NC_000001.11:206939179:C:T
            Gene:
            PIGR (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000056/2 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1471740109 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:206937108 (GRCh38)
              1:207110453 (GRCh37)
              Canonical SPDI:
              NC_000001.11:206937107:G:A
              Gene:
              PIGR (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1471593316 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:206930368 (GRCh38)
                1:207103713 (GRCh37)
                Canonical SPDI:
                NC_000001.11:206930367:G:A
                Gene:
                PIGR (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained
                HGVS:
                8.

                rs1469000321 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:206935625 (GRCh38)
                  1:207108970 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:206935624:G:T
                  Gene:
                  PIGR (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1467712774 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:206937664 (GRCh38)
                    1:207111009 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:206937663:G:A
                    Gene:
                    PIGR (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1466886549 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      1:206939392 (GRCh38)
                      1:207112737 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:206939391:T:A
                      Gene:
                      PIGR (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000068/3 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000023/6 (TOPMED)
                      A=0.000028/7 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1464207146 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:206932546 (GRCh38)
                        1:207105891 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:206932545:G:T
                        Gene:
                        PIGR (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 (TOPMED)
                        HGVS:
                        12.

                        rs1464005294 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:206935522 (GRCh38)
                          1:207108867 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:206935521:G:C
                          Gene:
                          PIGR (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1460939938 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            1:206933121 (GRCh38)
                            1:207106466 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:206933120:T:G
                            Gene:
                            PIGR (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1460760176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:206935615 (GRCh38)
                              1:207108960 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:206935614:C:T
                              Gene:
                              PIGR (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1457365458 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:206939443 (GRCh38)
                                1:207112788 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:206939442:T:C
                                Gene:
                                PIGR (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1456966208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:206932457 (GRCh38)
                                  1:207105802 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:206932456:G:A
                                  Gene:
                                  PIGR (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1456233111 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:206937708 (GRCh38)
                                    1:207111053 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:206937707:C:T
                                    Gene:
                                    PIGR (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1453390167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      1:206937556 (GRCh38)
                                      1:207110901 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:206937555:A:C
                                      Gene:
                                      PIGR (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1451665510 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        1:206934484 (GRCh38)
                                        1:207107829 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:206934483:C:A,NC_000001.11:206934483:C:T
                                        Gene:
                                        PIGR (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1451403350 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:206933103 (GRCh38)
                                          1:207106448 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:206933102:C:T
                                          Gene:
                                          PIGR (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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