U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 155

1.

rs1489928271 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    9:5463119 (GRCh38)
    9:5463119 (GRCh37)
    Canonical SPDI:
    NC_000009.12:5463118:C:A,NC_000009.12:5463118:C:G,NC_000009.12:5463118:C:T
    Gene:
    CD274 (Varview), LOC124902114 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.5463119C>A, NC_000009.12:g.5463119C>G, NC_000009.12:g.5463119C>T, NC_000009.11:g.5463119C>A, NC_000009.11:g.5463119C>G, NC_000009.11:g.5463119C>T, NM_014143.4:c.680C>A, NM_014143.4:c.680C>G, NM_014143.4:c.680C>T, NM_014143.3:c.680C>A, NM_014143.3:c.680C>G, NM_014143.3:c.680C>T, NR_052005.2:n.643C>A, NR_052005.2:n.643C>G, NR_052005.2:n.643C>T, NR_052005.1:n.682C>A, NR_052005.1:n.682C>G, NR_052005.1:n.682C>T, NM_001267706.2:c.338C>A, NM_001267706.2:c.338C>G, NM_001267706.2:c.338C>T, NM_001267706.1:c.338C>A, NM_001267706.1:c.338C>G, NM_001267706.1:c.338C>T, NM_001314029.2:c.680C>A, NM_001314029.2:c.680C>G, NM_001314029.2:c.680C>T, NM_001314029.1:c.680C>A, NM_001314029.1:c.680C>G, NM_001314029.1:c.680C>T, XM_047423262.1:c.575C>A, XM_047423262.1:c.575C>G, XM_047423262.1:c.575C>T, NP_054862.1:p.Pro227Gln, NP_054862.1:p.Pro227Arg, NP_054862.1:p.Pro227Leu, NP_001254635.1:p.Pro113Gln, NP_001254635.1:p.Pro113Arg, NP_001254635.1:p.Pro113Leu, NP_001300958.1:p.Pro227Gln, NP_001300958.1:p.Pro227Arg, NP_001300958.1:p.Pro227Leu, XP_047279218.1:p.Pro192Gln, XP_047279218.1:p.Pro192Arg, XP_047279218.1:p.Pro192Leu

    2.

    rs1487811405 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      9:5466775 (GRCh38)
      9:5466775 (GRCh37)
      Canonical SPDI:
      NC_000009.12:5466774:A:G
      Gene:
      CD274 (Varview), LOC124902114 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000019/5 (TOPMED)
      HGVS:

      3.

      rs1475495195 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        9:5466782 (GRCh38)
        9:5466782 (GRCh37)
        Canonical SPDI:
        NC_000009.12:5466781:A:T
        Gene:
        CD274 (Varview), LOC124902114 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1471394287 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          9:5465565 (GRCh38)
          9:5465565 (GRCh37)
          Canonical SPDI:
          NC_000009.12:5465564:G:A,NC_000009.12:5465564:G:C,NC_000009.12:5465564:G:T
          Gene:
          CD274 (Varview), LOC124902114 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1461605894 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            9:5456141 (GRCh38)
            9:5456141 (GRCh37)
            Canonical SPDI:
            NC_000009.12:5456140:A:C,NC_000009.12:5456140:A:T
            Gene:
            CD274 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1460086933 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              9:5467845 (GRCh38)
              9:5467845 (GRCh37)
              Canonical SPDI:
              NC_000009.12:5467844:C:G,NC_000009.12:5467844:C:T
              Gene:
              CD274 (Varview), LOC124902114 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1458763202 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                9:5465500 (GRCh38)
                9:5465500 (GRCh37)
                Canonical SPDI:
                NC_000009.12:5465499:A:G,NC_000009.12:5465499:A:T
                Gene:
                CD274 (Varview), LOC124902114 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1451791610 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  9:5465508 (GRCh38)
                  9:5465508 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:5465507:T:G
                  Gene:
                  CD274 (Varview), LOC124902114 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1442730971 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C,T [Show Flanks]
                    Chromosome:
                    9:5462866 (GRCh38)
                    9:5462866 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:5462865:G:A,NC_000009.12:5462865:G:C,NC_000009.12:5462865:G:T
                    Gene:
                    CD274 (Varview), LOC124902114 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.5462866G>A, NC_000009.12:g.5462866G>C, NC_000009.12:g.5462866G>T, NC_000009.11:g.5462866G>A, NC_000009.11:g.5462866G>C, NC_000009.11:g.5462866G>T, NM_014143.4:c.427G>A, NM_014143.4:c.427G>C, NM_014143.4:c.427G>T, NM_014143.3:c.427G>A, NM_014143.3:c.427G>C, NM_014143.3:c.427G>T, NR_052005.2:n.496G>A, NR_052005.2:n.496G>C, NR_052005.2:n.496G>T, NR_052005.1:n.535G>A, NR_052005.1:n.535G>C, NR_052005.1:n.535G>T, NM_001267706.2:c.85G>A, NM_001267706.2:c.85G>C, NM_001267706.2:c.85G>T, NM_001267706.1:c.85G>A, NM_001267706.1:c.85G>C, NM_001267706.1:c.85G>T, NM_001314029.2:c.427G>A, NM_001314029.2:c.427G>C, NM_001314029.2:c.427G>T, NM_001314029.1:c.427G>A, NM_001314029.1:c.427G>C, NM_001314029.1:c.427G>T, XM_047423262.1:c.322G>A, XM_047423262.1:c.322G>C, XM_047423262.1:c.322G>T, NP_054862.1:p.Val143Ile, NP_054862.1:p.Val143Leu, NP_054862.1:p.Val143Phe, NP_001254635.1:p.Val29Ile, NP_001254635.1:p.Val29Leu, NP_001254635.1:p.Val29Phe, NP_001300958.1:p.Val143Ile, NP_001300958.1:p.Val143Leu, NP_001300958.1:p.Val143Phe, XP_047279218.1:p.Val108Ile, XP_047279218.1:p.Val108Leu, XP_047279218.1:p.Val108Phe

                    10.

                    rs1433541247 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:5456122 (GRCh38)
                      9:5456122 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:5456121:A:G
                      Gene:
                      CD274 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1427305960 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        9:5462898 (GRCh38)
                        9:5462898 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:5462897:G:A,NC_000009.12:5462897:G:C
                        Gene:
                        CD274 (Varview), LOC124902114 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1426273970 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C,T [Show Flanks]
                          Chromosome:
                          9:5466797 (GRCh38)
                          9:5466797 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:5466796:G:A,NC_000009.12:5466796:G:C,NC_000009.12:5466796:G:T
                          Gene:
                          CD274 (Varview), LOC124902114 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.00006/1 (TOMMO)
                          HGVS:
                          NC_000009.12:g.5466797G>A, NC_000009.12:g.5466797G>C, NC_000009.12:g.5466797G>T, NC_000009.11:g.5466797G>A, NC_000009.11:g.5466797G>C, NC_000009.11:g.5466797G>T, NM_014143.4:c.818G>A, NM_014143.4:c.818G>C, NM_014143.4:c.818G>T, NM_014143.3:c.818G>A, NM_014143.3:c.818G>C, NM_014143.3:c.818G>T, NR_052005.2:n.714G>A, NR_052005.2:n.714G>C, NR_052005.2:n.714G>T, NR_052005.1:n.753G>A, NR_052005.1:n.753G>C, NR_052005.1:n.753G>T, NM_001267706.2:c.476G>A, NM_001267706.2:c.476G>C, NM_001267706.2:c.476G>T, NM_001267706.1:c.476G>A, NM_001267706.1:c.476G>C, NM_001267706.1:c.476G>T, XM_047423262.1:c.713G>A, XM_047423262.1:c.713G>C, XM_047423262.1:c.713G>T, NP_054862.1:p.Gly273Asp, NP_054862.1:p.Gly273Ala, NP_054862.1:p.Gly273Val, NP_001254635.1:p.Gly159Asp, NP_001254635.1:p.Gly159Ala, NP_001254635.1:p.Gly159Val, XP_047279218.1:p.Gly238Asp, XP_047279218.1:p.Gly238Ala, XP_047279218.1:p.Gly238Val

                          13.

                          rs1404070807 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            9:5465568 (GRCh38)
                            9:5465568 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:5465567:T:A
                            Gene:
                            CD274 (Varview), LOC124902114 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1401088731 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              9:5456133 (GRCh38)
                              9:5456133 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:5456132:T:G
                              Gene:
                              CD274 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000111/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1393730393 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                9:5462878 (GRCh38)
                                9:5462878 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:5462877:G:A,NC_000009.12:5462877:G:C
                                Gene:
                                CD274 (Varview), LOC124902114 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,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:

                                16.

                                rs1391142371 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  9:5462996 (GRCh38)
                                  9:5462996 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:5462995:G:A,NC_000009.12:5462995:G:C,NC_000009.12:5462995:G:T
                                  Gene:
                                  CD274 (Varview), LOC124902114 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.5462996G>A, NC_000009.12:g.5462996G>C, NC_000009.12:g.5462996G>T, NC_000009.11:g.5462996G>A, NC_000009.11:g.5462996G>C, NC_000009.11:g.5462996G>T, NM_014143.4:c.557G>A, NM_014143.4:c.557G>C, NM_014143.4:c.557G>T, NM_014143.3:c.557G>A, NM_014143.3:c.557G>C, NM_014143.3:c.557G>T, NM_001267706.2:c.215G>A, NM_001267706.2:c.215G>C, NM_001267706.2:c.215G>T, NM_001267706.1:c.215G>A, NM_001267706.1:c.215G>C, NM_001267706.1:c.215G>T, NM_001314029.2:c.557G>A, NM_001314029.2:c.557G>C, NM_001314029.2:c.557G>T, NM_001314029.1:c.557G>A, NM_001314029.1:c.557G>C, NM_001314029.1:c.557G>T, XM_047423262.1:c.452G>A, XM_047423262.1:c.452G>C, XM_047423262.1:c.452G>T, NP_054862.1:p.Arg186Lys, NP_054862.1:p.Arg186Thr, NP_054862.1:p.Arg186Ile, NP_001254635.1:p.Arg72Lys, NP_001254635.1:p.Arg72Thr, NP_001254635.1:p.Arg72Ile, NP_001300958.1:p.Arg186Lys, NP_001300958.1:p.Arg186Thr, NP_001300958.1:p.Arg186Ile, XP_047279218.1:p.Arg151Lys, XP_047279218.1:p.Arg151Thr, XP_047279218.1:p.Arg151Ile

                                  17.

                                  rs1388263430 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:5466795 (GRCh38)
                                    9:5466795 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:5466794:T:C
                                    Gene:
                                    CD274 (Varview), LOC124902114 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000028/1 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000036/5 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1386394759 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->AA [Show Flanks]
                                      Chromosome:
                                      9:5466809 (GRCh38)
                                      9:5466810 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:5466809:AAA:AAAAA
                                      Gene:
                                      CD274 (Varview), LOC124902114 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      AA=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1377756707 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        9:5462857 (GRCh38)
                                        9:5462857 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:5462856:A:C
                                        Gene:
                                        CD274 (Varview), LOC124902114 (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:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1373165399 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          9:5465540 (GRCh38)
                                          9:5465540 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:5465539:G:A,NC_000009.12:5465539:G:C,NC_000009.12:5465539:G:T
                                          Gene:
                                          CD274 (Varview), LOC124902114 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,splice_donor_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...