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Items: 1 to 20 of 701

1.

rs1489452667 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:99402642 (GRCh38)
    6:99850518 (GRCh37)
    Canonical SPDI:
    NC_000006.12:99402641:C:T
    Gene:
    PNISR (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000006.12:g.99402642C>T, NC_000006.11:g.99850518C>T, XM_005266912.5:c.1225G>A, XM_005266912.4:c.1414G>A, XM_005266912.3:c.1225G>A, XM_005266912.2:c.1414G>A, XM_005266912.1:c.1414G>A, NM_032870.4:c.1225G>A, NM_032870.3:c.1225G>A, NM_032870.2:c.1225G>A, NM_015491.3:c.1225G>A, NM_015491.2:c.1225G>A, NM_015491.1:c.1225G>A, NR_136326.2:n.2070G>A, NR_136326.1:n.2107G>A, NM_001322406.2:c.1225G>A, NM_001322406.1:c.1225G>A, NM_001322405.2:c.1225G>A, NM_001322405.1:c.1225G>A, NM_001322414.2:c.1171G>A, NM_001322414.1:c.1171G>A, NM_001322408.2:c.1225G>A, NM_001322408.1:c.1225G>A, NM_001322415.2:c.1171G>A, NM_001322415.1:c.1171G>A, NM_001322410.2:c.1225G>A, NM_001322410.1:c.1225G>A, NM_001322412.2:c.1225G>A, NM_001322412.1:c.1225G>A, NM_001322413.2:c.1225G>A, NM_001322413.1:c.1225G>A, NM_001322416.2:c.1225G>A, NM_001322416.1:c.1225G>A, XP_005266969.4:p.Asp409Asn, NP_116259.2:p.Asp409Asn, NP_056306.1:p.Asp409Asn, NP_001309335.1:p.Asp409Asn, NP_001309334.1:p.Asp409Asn, NP_001309343.1:p.Asp391Asn, NP_001309337.1:p.Asp409Asn, NP_001309344.1:p.Asp391Asn, NP_001309339.1:p.Asp409Asn, NP_001309341.1:p.Asp409Asn, NP_001309342.1:p.Asp409Asn, NP_001309345.1:p.Asp409Asn

    2.

    rs1488918264 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      6:99401160 (GRCh38)
      6:99849036 (GRCh37)
      Canonical SPDI:
      NC_000006.12:99401159:T:A
      Gene:
      PNISR (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.99401160T>A, NC_000006.11:g.99849036T>A, XM_005266912.5:c.1798A>T, XM_005266912.4:c.1987A>T, XM_005266912.3:c.1798A>T, XM_005266912.2:c.1987A>T, XM_005266912.1:c.1987A>T, NM_032870.4:c.1798A>T, NM_032870.3:c.1798A>T, NM_032870.2:c.1798A>T, NM_015491.3:c.1798A>T, NM_015491.2:c.1798A>T, NM_015491.1:c.1798A>T, NR_136326.2:n.2643A>T, NR_136326.1:n.2680A>T, NM_001322406.2:c.1798A>T, NM_001322406.1:c.1798A>T, NM_001322405.2:c.1798A>T, NM_001322405.1:c.1798A>T, NM_001322414.2:c.1744A>T, NM_001322414.1:c.1744A>T, NM_001322408.2:c.1798A>T, NM_001322408.1:c.1798A>T, NM_001322415.2:c.1744A>T, NM_001322415.1:c.1744A>T, NM_001322410.2:c.1798A>T, NM_001322410.1:c.1798A>T, NM_001322412.2:c.1798A>T, NM_001322412.1:c.1798A>T, NM_001322413.2:c.1798A>T, NM_001322413.1:c.1798A>T, XP_005266969.4:p.Asn600Tyr, NP_116259.2:p.Asn600Tyr, NP_056306.1:p.Asn600Tyr, NP_001309335.1:p.Asn600Tyr, NP_001309334.1:p.Asn600Tyr, NP_001309343.1:p.Asn582Tyr, NP_001309337.1:p.Asn600Tyr, NP_001309344.1:p.Asn582Tyr, NP_001309339.1:p.Asn600Tyr, NP_001309341.1:p.Asn600Tyr, NP_001309342.1:p.Asn600Tyr

      3.

      rs1488796978 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:99404645 (GRCh38)
        6:99852521 (GRCh37)
        Canonical SPDI:
        NC_000006.12:99404644:T:C
        Gene:
        PNISR (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.99404645T>C, NC_000006.11:g.99852521T>C, XM_005266912.5:c.1060A>G, XM_005266912.4:c.1249A>G, XM_005266912.3:c.1060A>G, XM_005266912.2:c.1249A>G, XM_005266912.1:c.1249A>G, NM_032870.4:c.1060A>G, NM_032870.3:c.1060A>G, NM_032870.2:c.1060A>G, NM_015491.3:c.1060A>G, NM_015491.2:c.1060A>G, NM_015491.1:c.1060A>G, NR_136326.2:n.1185A>G, NR_136326.1:n.1222A>G, NM_001322406.2:c.1060A>G, NM_001322406.1:c.1060A>G, NM_001322405.2:c.1060A>G, NM_001322405.1:c.1060A>G, NM_001322414.2:c.1060A>G, NM_001322414.1:c.1060A>G, NM_001322408.2:c.1060A>G, NM_001322408.1:c.1060A>G, NM_001322415.2:c.1060A>G, NM_001322415.1:c.1060A>G, NM_001322410.2:c.1060A>G, NM_001322410.1:c.1060A>G, NM_001322412.2:c.1060A>G, NM_001322412.1:c.1060A>G, NM_001322413.2:c.1060A>G, NM_001322413.1:c.1060A>G, NM_001322416.2:c.1060A>G, NM_001322416.1:c.1060A>G, XP_005266969.4:p.Ile354Val, NP_116259.2:p.Ile354Val, NP_056306.1:p.Ile354Val, NP_001309335.1:p.Ile354Val, NP_001309334.1:p.Ile354Val, NP_001309343.1:p.Ile354Val, NP_001309337.1:p.Ile354Val, NP_001309344.1:p.Ile354Val, NP_001309339.1:p.Ile354Val, NP_001309341.1:p.Ile354Val, NP_001309342.1:p.Ile354Val, NP_001309345.1:p.Ile354Val

        4.

        rs1488390005 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:99401154 (GRCh38)
          6:99849030 (GRCh37)
          Canonical SPDI:
          NC_000006.12:99401153:T:C
          Gene:
          PNISR (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          T=0.5/1 (SGDP_PRJ)
          HGVS:
          NC_000006.12:g.99401154T>C, NC_000006.11:g.99849030T>C, XM_005266912.5:c.1804A>G, XM_005266912.4:c.1993A>G, XM_005266912.3:c.1804A>G, XM_005266912.2:c.1993A>G, XM_005266912.1:c.1993A>G, NM_032870.4:c.1804A>G, NM_032870.3:c.1804A>G, NM_032870.2:c.1804A>G, NM_015491.3:c.1804A>G, NM_015491.2:c.1804A>G, NM_015491.1:c.1804A>G, NR_136326.2:n.2649A>G, NR_136326.1:n.2686A>G, NM_001322406.2:c.1804A>G, NM_001322406.1:c.1804A>G, NM_001322405.2:c.1804A>G, NM_001322405.1:c.1804A>G, NM_001322414.2:c.1750A>G, NM_001322414.1:c.1750A>G, NM_001322408.2:c.1804A>G, NM_001322408.1:c.1804A>G, NM_001322415.2:c.1750A>G, NM_001322415.1:c.1750A>G, NM_001322410.2:c.1804A>G, NM_001322410.1:c.1804A>G, NM_001322412.2:c.1804A>G, NM_001322412.1:c.1804A>G, NM_001322413.2:c.1804A>G, NM_001322413.1:c.1804A>G, XP_005266969.4:p.Ile602Val, NP_116259.2:p.Ile602Val, NP_056306.1:p.Ile602Val, NP_001309335.1:p.Ile602Val, NP_001309334.1:p.Ile602Val, NP_001309343.1:p.Ile584Val, NP_001309337.1:p.Ile602Val, NP_001309344.1:p.Ile584Val, NP_001309339.1:p.Ile602Val, NP_001309341.1:p.Ile602Val, NP_001309342.1:p.Ile602Val

          5.

          rs1486425108 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            6:99400549 (GRCh38)
            6:99848425 (GRCh37)
            Canonical SPDI:
            NC_000006.12:99400548:T:A
            Gene:
            PNISR (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            A=0.000035/1 (TOMMO)
            HGVS:

            6.

            rs1483933830 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:99400705 (GRCh38)
              6:99848581 (GRCh37)
              Canonical SPDI:
              NC_000006.12:99400704:A:G
              Gene:
              PNISR (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              HGVS:

              7.

              rs1482546413 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:99412676 (GRCh38)
                6:99860552 (GRCh37)
                Canonical SPDI:
                NC_000006.12:99412675:T:C
                Gene:
                PNISR (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000006.12:g.99412676T>C, NC_000006.11:g.99860552T>C, XM_005266912.5:c.152A>G, XM_005266912.4:c.341A>G, XM_005266912.3:c.152A>G, XM_005266912.2:c.341A>G, XM_005266912.1:c.341A>G, NM_032870.4:c.152A>G, NM_032870.3:c.152A>G, NM_032870.2:c.152A>G, NM_015491.3:c.152A>G, NM_015491.2:c.152A>G, NM_015491.1:c.152A>G, NR_136326.2:n.277A>G, NR_136326.1:n.314A>G, NM_001322406.2:c.152A>G, NM_001322406.1:c.152A>G, NM_001322405.2:c.152A>G, NM_001322405.1:c.152A>G, NM_001322414.2:c.152A>G, NM_001322414.1:c.152A>G, NM_001322408.2:c.152A>G, NM_001322408.1:c.152A>G, NM_001322415.2:c.152A>G, NM_001322415.1:c.152A>G, NM_001322410.2:c.152A>G, NM_001322410.1:c.152A>G, NM_001322412.2:c.152A>G, NM_001322412.1:c.152A>G, NM_001322413.2:c.152A>G, NM_001322413.1:c.152A>G, NM_001322416.2:c.152A>G, NM_001322416.1:c.152A>G, NM_001322419.2:c.152A>G, NM_001322419.1:c.152A>G, NM_001322418.2:c.152A>G, NM_001322418.1:c.152A>G, NM_001322417.2:c.152A>G, NM_001322417.1:c.152A>G, XP_005266969.4:p.Gln51Arg, NP_116259.2:p.Gln51Arg, NP_056306.1:p.Gln51Arg, NP_001309335.1:p.Gln51Arg, NP_001309334.1:p.Gln51Arg, NP_001309343.1:p.Gln51Arg, NP_001309337.1:p.Gln51Arg, NP_001309344.1:p.Gln51Arg, NP_001309339.1:p.Gln51Arg, NP_001309341.1:p.Gln51Arg, NP_001309342.1:p.Gln51Arg, NP_001309345.1:p.Gln51Arg, NP_001309348.1:p.Gln51Arg, NP_001309347.1:p.Gln51Arg, NP_001309346.1:p.Gln51Arg

                8.

                rs1481468469 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  6:99409318 (GRCh38)
                  6:99857194 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:99409317:T:G
                  Gene:
                  PNISR (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_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:
                  NC_000006.12:g.99409318T>G, NC_000006.11:g.99857194T>G, XM_005266912.5:c.528A>C, XM_005266912.4:c.717A>C, XM_005266912.3:c.528A>C, XM_005266912.2:c.717A>C, XM_005266912.1:c.717A>C, NM_032870.4:c.528A>C, NM_032870.3:c.528A>C, NM_032870.2:c.528A>C, NM_015491.3:c.528A>C, NM_015491.2:c.528A>C, NM_015491.1:c.528A>C, NR_136326.2:n.653A>C, NR_136326.1:n.690A>C, NM_001322406.2:c.528A>C, NM_001322406.1:c.528A>C, NM_001322405.2:c.528A>C, NM_001322405.1:c.528A>C, NM_001322414.2:c.528A>C, NM_001322414.1:c.528A>C, NM_001322408.2:c.528A>C, NM_001322408.1:c.528A>C, NM_001322415.2:c.528A>C, NM_001322415.1:c.528A>C, NM_001322410.2:c.528A>C, NM_001322410.1:c.528A>C, NM_001322412.2:c.528A>C, NM_001322412.1:c.528A>C, NM_001322413.2:c.528A>C, NM_001322413.1:c.528A>C, NM_001322416.2:c.528A>C, NM_001322416.1:c.528A>C, XP_005266969.4:p.Gln176His, NP_116259.2:p.Gln176His, NP_056306.1:p.Gln176His, NP_001309335.1:p.Gln176His, NP_001309334.1:p.Gln176His, NP_001309343.1:p.Gln176His, NP_001309337.1:p.Gln176His, NP_001309344.1:p.Gln176His, NP_001309339.1:p.Gln176His, NP_001309341.1:p.Gln176His, NP_001309342.1:p.Gln176His, NP_001309345.1:p.Gln176His

                  9.

                  rs1478263681 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    6:99406151 (GRCh38)
                    6:99854027 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:99406150:T:G
                    Gene:
                    PNISR (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.99406151T>G, NC_000006.11:g.99854027T>G, XM_005266912.5:c.882A>C, XM_005266912.4:c.1071A>C, XM_005266912.3:c.882A>C, XM_005266912.2:c.1071A>C, XM_005266912.1:c.1071A>C, NM_032870.4:c.882A>C, NM_032870.3:c.882A>C, NM_032870.2:c.882A>C, NM_015491.3:c.882A>C, NM_015491.2:c.882A>C, NM_015491.1:c.882A>C, NR_136326.2:n.1007A>C, NR_136326.1:n.1044A>C, NM_001322406.2:c.882A>C, NM_001322406.1:c.882A>C, NM_001322405.2:c.882A>C, NM_001322405.1:c.882A>C, NM_001322414.2:c.882A>C, NM_001322414.1:c.882A>C, NM_001322408.2:c.882A>C, NM_001322408.1:c.882A>C, NM_001322415.2:c.882A>C, NM_001322415.1:c.882A>C, NM_001322410.2:c.882A>C, NM_001322410.1:c.882A>C, NM_001322412.2:c.882A>C, NM_001322412.1:c.882A>C, NM_001322413.2:c.882A>C, NM_001322413.1:c.882A>C, NM_001322416.2:c.882A>C, NM_001322416.1:c.882A>C, XP_005266969.4:p.Glu294Asp, NP_116259.2:p.Glu294Asp, NP_056306.1:p.Glu294Asp, NP_001309335.1:p.Glu294Asp, NP_001309334.1:p.Glu294Asp, NP_001309343.1:p.Glu294Asp, NP_001309337.1:p.Glu294Asp, NP_001309344.1:p.Glu294Asp, NP_001309339.1:p.Glu294Asp, NP_001309341.1:p.Glu294Asp, NP_001309342.1:p.Glu294Asp, NP_001309345.1:p.Glu294Asp

                    10.

                    rs1476804612 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      6:99400897 (GRCh38)
                      6:99848773 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:99400896:T:C
                      Gene:
                      PNISR (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1475982341 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        6:99401177 (GRCh38)
                        6:99849053 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:99401176:C:G
                        Gene:
                        PNISR (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.99401177C>G, NC_000006.11:g.99849053C>G, XM_005266912.5:c.1781G>C, XM_005266912.4:c.1970G>C, XM_005266912.3:c.1781G>C, XM_005266912.2:c.1970G>C, XM_005266912.1:c.1970G>C, NM_032870.4:c.1781G>C, NM_032870.3:c.1781G>C, NM_032870.2:c.1781G>C, NM_015491.3:c.1781G>C, NM_015491.2:c.1781G>C, NM_015491.1:c.1781G>C, NR_136326.2:n.2626G>C, NR_136326.1:n.2663G>C, NM_001322406.2:c.1781G>C, NM_001322406.1:c.1781G>C, NM_001322405.2:c.1781G>C, NM_001322405.1:c.1781G>C, NM_001322414.2:c.1727G>C, NM_001322414.1:c.1727G>C, NM_001322408.2:c.1781G>C, NM_001322408.1:c.1781G>C, NM_001322415.2:c.1727G>C, NM_001322415.1:c.1727G>C, NM_001322410.2:c.1781G>C, NM_001322410.1:c.1781G>C, NM_001322412.2:c.1781G>C, NM_001322412.1:c.1781G>C, NM_001322413.2:c.1781G>C, NM_001322413.1:c.1781G>C, XP_005266969.4:p.Arg594Thr, NP_116259.2:p.Arg594Thr, NP_056306.1:p.Arg594Thr, NP_001309335.1:p.Arg594Thr, NP_001309334.1:p.Arg594Thr, NP_001309343.1:p.Arg576Thr, NP_001309337.1:p.Arg594Thr, NP_001309344.1:p.Arg576Thr, NP_001309339.1:p.Arg594Thr, NP_001309341.1:p.Arg594Thr, NP_001309342.1:p.Arg594Thr

                        12.

                        rs1475930546 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:99400881 (GRCh38)
                          6:99848757 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:99400880:C:T
                          Gene:
                          PNISR (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.001185/30 (ALFA)
                          T=0.000026/6 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.99400881C>T, NC_000006.11:g.99848757C>T, XM_005266912.5:c.2077G>A, XM_005266912.4:c.2266G>A, XM_005266912.3:c.2077G>A, XM_005266912.2:c.2266G>A, XM_005266912.1:c.2266G>A, NM_032870.4:c.2077G>A, NM_032870.3:c.2077G>A, NM_032870.2:c.2077G>A, NM_015491.3:c.2077G>A, NM_015491.2:c.2077G>A, NM_015491.1:c.2077G>A, NR_136326.2:n.2922G>A, NR_136326.1:n.2959G>A, NM_001322406.2:c.2077G>A, NM_001322406.1:c.2077G>A, NM_001322405.2:c.2077G>A, NM_001322405.1:c.2077G>A, NM_001322414.2:c.2023G>A, NM_001322414.1:c.2023G>A, NM_001322408.2:c.2077G>A, NM_001322408.1:c.2077G>A, NM_001322415.2:c.2023G>A, NM_001322415.1:c.2023G>A, NM_001322410.2:c.2077G>A, NM_001322410.1:c.2077G>A, NM_001322412.2:c.2077G>A, NM_001322412.1:c.2077G>A, NM_001322413.2:c.2077G>A, NM_001322413.1:c.2077G>A, XP_005266969.4:p.Glu693Lys, NP_116259.2:p.Glu693Lys, NP_056306.1:p.Glu693Lys, NP_001309335.1:p.Glu693Lys, NP_001309334.1:p.Glu693Lys, NP_001309343.1:p.Glu675Lys, NP_001309337.1:p.Glu693Lys, NP_001309344.1:p.Glu675Lys, NP_001309339.1:p.Glu693Lys, NP_001309341.1:p.Glu693Lys, NP_001309342.1:p.Glu693Lys

                          13.

                          rs1475265834 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:99410782 (GRCh38)
                            6:99858658 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:99410781:C:T
                            Gene:
                            PNISR (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,non_coding_transcript_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)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000006.12:g.99410782C>T, NC_000006.11:g.99858658C>T, XM_005266912.5:c.460G>A, XM_005266912.4:c.649G>A, XM_005266912.3:c.460G>A, XM_005266912.2:c.649G>A, XM_005266912.1:c.649G>A, NM_032870.4:c.460G>A, NM_032870.3:c.460G>A, NM_032870.2:c.460G>A, NM_015491.3:c.460G>A, NM_015491.2:c.460G>A, NM_015491.1:c.460G>A, NR_136326.2:n.585G>A, NR_136326.1:n.622G>A, NM_001322406.2:c.460G>A, NM_001322406.1:c.460G>A, NM_001322405.2:c.460G>A, NM_001322405.1:c.460G>A, NM_001322414.2:c.460G>A, NM_001322414.1:c.460G>A, NM_001322408.2:c.460G>A, NM_001322408.1:c.460G>A, NM_001322415.2:c.460G>A, NM_001322415.1:c.460G>A, NM_001322410.2:c.460G>A, NM_001322410.1:c.460G>A, NM_001322412.2:c.460G>A, NM_001322412.1:c.460G>A, NM_001322413.2:c.460G>A, NM_001322413.1:c.460G>A, NM_001322416.2:c.460G>A, NM_001322416.1:c.460G>A, NM_001322419.2:c.*1532G>A, NM_001322419.1:c.*1532G>A, NM_001322418.2:c.*1532G>A, NM_001322418.1:c.*1532G>A, NM_001322417.2:c.460G>A, NM_001322417.1:c.460G>A, XP_005266969.4:p.Asp154Asn, NP_116259.2:p.Asp154Asn, NP_056306.1:p.Asp154Asn, NP_001309335.1:p.Asp154Asn, NP_001309334.1:p.Asp154Asn, NP_001309343.1:p.Asp154Asn, NP_001309337.1:p.Asp154Asn, NP_001309344.1:p.Asp154Asn, NP_001309339.1:p.Asp154Asn, NP_001309341.1:p.Asp154Asn, NP_001309342.1:p.Asp154Asn, NP_001309345.1:p.Asp154Asn, NP_001309346.1:p.Asp154Asn

                            14.

                            rs1475251678 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:99410867 (GRCh38)
                              6:99858743 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:99410866:G:A
                              Gene:
                              PNISR (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,synonymous_variant,non_coding_transcript_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:
                              NC_000006.12:g.99410867G>A, NC_000006.11:g.99858743G>A, XM_005266912.5:c.375C>T, XM_005266912.4:c.564C>T, XM_005266912.3:c.375C>T, XM_005266912.2:c.564C>T, XM_005266912.1:c.564C>T, NM_032870.4:c.375C>T, NM_032870.3:c.375C>T, NM_032870.2:c.375C>T, NM_015491.3:c.375C>T, NM_015491.2:c.375C>T, NM_015491.1:c.375C>T, NR_136326.2:n.500C>T, NR_136326.1:n.537C>T, NM_001322406.2:c.375C>T, NM_001322406.1:c.375C>T, NM_001322405.2:c.375C>T, NM_001322405.1:c.375C>T, NM_001322414.2:c.375C>T, NM_001322414.1:c.375C>T, NM_001322408.2:c.375C>T, NM_001322408.1:c.375C>T, NM_001322415.2:c.375C>T, NM_001322415.1:c.375C>T, NM_001322410.2:c.375C>T, NM_001322410.1:c.375C>T, NM_001322412.2:c.375C>T, NM_001322412.1:c.375C>T, NM_001322413.2:c.375C>T, NM_001322413.1:c.375C>T, NM_001322416.2:c.375C>T, NM_001322416.1:c.375C>T, NM_001322419.2:c.*1447C>T, NM_001322419.1:c.*1447C>T, NM_001322418.2:c.*1447C>T, NM_001322418.1:c.*1447C>T, NM_001322417.2:c.375C>T, NM_001322417.1:c.375C>T

                              15.

                              rs1471287087 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:99400963 (GRCh38)
                                6:99848839 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:99400962:C:T
                                Gene:
                                PNISR (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.00005/1 (ALFA)
                                HGVS:

                                16.

                                rs1471118168 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:99409242 (GRCh38)
                                  6:99857118 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:99409241:G:A
                                  Gene:
                                  PNISR (Varview)
                                  Functional Consequence:
                                  missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000111/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.99409242G>A, NC_000006.11:g.99857118G>A, XM_005266912.5:c.604C>T, XM_005266912.4:c.793C>T, XM_005266912.3:c.604C>T, XM_005266912.2:c.793C>T, XM_005266912.1:c.793C>T, NM_032870.4:c.604C>T, NM_032870.3:c.604C>T, NM_032870.2:c.604C>T, NM_015491.3:c.604C>T, NM_015491.2:c.604C>T, NM_015491.1:c.604C>T, NR_136326.2:n.729C>T, NR_136326.1:n.766C>T, NM_001322406.2:c.604C>T, NM_001322406.1:c.604C>T, NM_001322405.2:c.604C>T, NM_001322405.1:c.604C>T, NM_001322414.2:c.604C>T, NM_001322414.1:c.604C>T, NM_001322408.2:c.604C>T, NM_001322408.1:c.604C>T, NM_001322415.2:c.604C>T, NM_001322415.1:c.604C>T, NM_001322410.2:c.604C>T, NM_001322410.1:c.604C>T, NM_001322412.2:c.604C>T, NM_001322412.1:c.604C>T, NM_001322413.2:c.604C>T, NM_001322413.1:c.604C>T, NM_001322416.2:c.604C>T, NM_001322416.1:c.604C>T, XP_005266969.4:p.Pro202Ser, NP_116259.2:p.Pro202Ser, NP_056306.1:p.Pro202Ser, NP_001309335.1:p.Pro202Ser, NP_001309334.1:p.Pro202Ser, NP_001309343.1:p.Pro202Ser, NP_001309337.1:p.Pro202Ser, NP_001309344.1:p.Pro202Ser, NP_001309339.1:p.Pro202Ser, NP_001309341.1:p.Pro202Ser, NP_001309342.1:p.Pro202Ser, NP_001309345.1:p.Pro202Ser

                                  17.

                                  rs1468523888 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:99409324 (GRCh38)
                                    6:99857200 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:99409323:T:C
                                    Gene:
                                    PNISR (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.99409324T>C, NC_000006.11:g.99857200T>C, XM_005266912.5:c.522A>G, XM_005266912.4:c.711A>G, XM_005266912.3:c.522A>G, XM_005266912.2:c.711A>G, XM_005266912.1:c.711A>G, NM_032870.4:c.522A>G, NM_032870.3:c.522A>G, NM_032870.2:c.522A>G, NM_015491.3:c.522A>G, NM_015491.2:c.522A>G, NM_015491.1:c.522A>G, NR_136326.2:n.647A>G, NR_136326.1:n.684A>G, NM_001322406.2:c.522A>G, NM_001322406.1:c.522A>G, NM_001322405.2:c.522A>G, NM_001322405.1:c.522A>G, NM_001322414.2:c.522A>G, NM_001322414.1:c.522A>G, NM_001322408.2:c.522A>G, NM_001322408.1:c.522A>G, NM_001322415.2:c.522A>G, NM_001322415.1:c.522A>G, NM_001322410.2:c.522A>G, NM_001322410.1:c.522A>G, NM_001322412.2:c.522A>G, NM_001322412.1:c.522A>G, NM_001322413.2:c.522A>G, NM_001322413.1:c.522A>G, NM_001322416.2:c.522A>G, NM_001322416.1:c.522A>G

                                    18.

                                    rs1465810940 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:99401060 (GRCh38)
                                      6:99848936 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:99401059:C:T
                                      Gene:
                                      PNISR (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000047/1 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.99401060C>T, NC_000006.11:g.99848936C>T, XM_005266912.5:c.1898G>A, XM_005266912.4:c.2087G>A, XM_005266912.3:c.1898G>A, XM_005266912.2:c.2087G>A, XM_005266912.1:c.2087G>A, NM_032870.4:c.1898G>A, NM_032870.3:c.1898G>A, NM_032870.2:c.1898G>A, NM_015491.3:c.1898G>A, NM_015491.2:c.1898G>A, NM_015491.1:c.1898G>A, NR_136326.2:n.2743G>A, NR_136326.1:n.2780G>A, NM_001322406.2:c.1898G>A, NM_001322406.1:c.1898G>A, NM_001322405.2:c.1898G>A, NM_001322405.1:c.1898G>A, NM_001322414.2:c.1844G>A, NM_001322414.1:c.1844G>A, NM_001322408.2:c.1898G>A, NM_001322408.1:c.1898G>A, NM_001322415.2:c.1844G>A, NM_001322415.1:c.1844G>A, NM_001322410.2:c.1898G>A, NM_001322410.1:c.1898G>A, NM_001322412.2:c.1898G>A, NM_001322412.1:c.1898G>A, NM_001322413.2:c.1898G>A, NM_001322413.1:c.1898G>A, XP_005266969.4:p.Arg633His, NP_116259.2:p.Arg633His, NP_056306.1:p.Arg633His, NP_001309335.1:p.Arg633His, NP_001309334.1:p.Arg633His, NP_001309343.1:p.Arg615His, NP_001309337.1:p.Arg633His, NP_001309344.1:p.Arg615His, NP_001309339.1:p.Arg633His, NP_001309341.1:p.Arg633His, NP_001309342.1:p.Arg633His

                                      19.

                                      rs1465346739 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:99401474 (GRCh38)
                                        6:99849350 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:99401473:G:A
                                        Gene:
                                        PNISR (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.99401474G>A, NC_000006.11:g.99849350G>A, XM_005266912.5:c.1484C>T, XM_005266912.4:c.1673C>T, XM_005266912.3:c.1484C>T, XM_005266912.2:c.1673C>T, XM_005266912.1:c.1673C>T, NM_032870.4:c.1484C>T, NM_032870.3:c.1484C>T, NM_032870.2:c.1484C>T, NM_015491.3:c.1484C>T, NM_015491.2:c.1484C>T, NM_015491.1:c.1484C>T, NR_136326.2:n.2329C>T, NR_136326.1:n.2366C>T, NM_001322406.2:c.1484C>T, NM_001322406.1:c.1484C>T, NM_001322405.2:c.1484C>T, NM_001322405.1:c.1484C>T, NM_001322414.2:c.1430C>T, NM_001322414.1:c.1430C>T, NM_001322408.2:c.1484C>T, NM_001322408.1:c.1484C>T, NM_001322415.2:c.1430C>T, NM_001322415.1:c.1430C>T, NM_001322410.2:c.1484C>T, NM_001322410.1:c.1484C>T, NM_001322412.2:c.1484C>T, NM_001322412.1:c.1484C>T, NM_001322413.2:c.1484C>T, NM_001322413.1:c.1484C>T, XP_005266969.4:p.Pro495Leu, NP_116259.2:p.Pro495Leu, NP_056306.1:p.Pro495Leu, NP_001309335.1:p.Pro495Leu, NP_001309334.1:p.Pro495Leu, NP_001309343.1:p.Pro477Leu, NP_001309337.1:p.Pro495Leu, NP_001309344.1:p.Pro477Leu, NP_001309339.1:p.Pro495Leu, NP_001309341.1:p.Pro495Leu, NP_001309342.1:p.Pro495Leu

                                        20.

                                        rs1464772165 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          6:99414638 (GRCh38)
                                          6:99862514 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:99414637:G:T
                                          Gene:
                                          PNISR (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.99414638G>T, NC_000006.11:g.99862514G>T, XM_005266912.5:c.22C>A, XM_005266912.4:c.211C>A, XM_005266912.3:c.22C>A, XM_005266912.2:c.211C>A, XM_005266912.1:c.211C>A, NM_032870.4:c.22C>A, NM_032870.3:c.22C>A, NM_032870.2:c.22C>A, NM_015491.3:c.22C>A, NM_015491.2:c.22C>A, NM_015491.1:c.22C>A, NR_136326.2:n.147C>A, NR_136326.1:n.184C>A, NM_001322406.2:c.22C>A, NM_001322406.1:c.22C>A, NM_001322405.2:c.22C>A, NM_001322405.1:c.22C>A, NM_001322414.2:c.22C>A, NM_001322414.1:c.22C>A, NM_001322408.2:c.22C>A, NM_001322408.1:c.22C>A, NM_001322415.2:c.22C>A, NM_001322415.1:c.22C>A, NM_001322410.2:c.22C>A, NM_001322410.1:c.22C>A, NM_001322412.2:c.22C>A, NM_001322412.1:c.22C>A, NM_001322413.2:c.22C>A, NM_001322413.1:c.22C>A, NM_001322416.2:c.22C>A, NM_001322416.1:c.22C>A, NM_001322419.2:c.22C>A, NM_001322419.1:c.22C>A, NM_001322418.2:c.22C>A, NM_001322418.1:c.22C>A, NM_001322417.2:c.22C>A, NM_001322417.1:c.22C>A, XP_005266969.4:p.Pro8Thr, NP_116259.2:p.Pro8Thr, NP_056306.1:p.Pro8Thr, NP_001309335.1:p.Pro8Thr, NP_001309334.1:p.Pro8Thr, NP_001309343.1:p.Pro8Thr, NP_001309337.1:p.Pro8Thr, NP_001309344.1:p.Pro8Thr, NP_001309339.1:p.Pro8Thr, NP_001309341.1:p.Pro8Thr, NP_001309342.1:p.Pro8Thr, NP_001309345.1:p.Pro8Thr, NP_001309348.1:p.Pro8Thr, NP_001309347.1:p.Pro8Thr, NP_001309346.1:p.Pro8Thr

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