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Items: 1 to 20 of 753

1.

rs1487875537 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:119968118 (GRCh38)
    1:120510741 (GRCh37)
    Canonical SPDI:
    NC_000001.11:119968117:T:C
    Gene:
    NOTCH2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    C=0.00006/1 (TOMMO)
    HGVS:

    2.

    rs1483822331 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      1:120005546 (GRCh38)
      1:120548169 (GRCh37)
      Canonical SPDI:
      NC_000001.11:120005545:G:A,NC_000001.11:120005545:G:C,NC_000001.11:120005545:G:T
      Gene:
      NOTCH2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1482060229 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        1:119968150 (GRCh38)
        1:120510773 (GRCh37)
        Canonical SPDI:
        NC_000001.11:119968149:C:A,NC_000001.11:119968149:C:T
        Gene:
        NOTCH2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000015/4 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:

        4.

        rs1479513169 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          1:119937415 (GRCh38)
          1:120480038 (GRCh37)
          Canonical SPDI:
          NC_000001.11:119937414:C:A,NC_000001.11:119937414:C:G,NC_000001.11:119937414:C:T
          Gene:
          NOTCH2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_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_000001.11:g.119937415C>A, NC_000001.11:g.119937415C>G, NC_000001.11:g.119937415C>T, NW_003871056.3:g.8989C>A, NW_003871056.3:g.8989C>G, NW_003871056.3:g.8989C>T, NG_008163.2:g.137247G>T, NG_008163.2:g.137247G>C, NG_008163.2:g.137247G>A, NG_008163.1:g.137239G>T, NG_008163.1:g.137239G>C, NG_008163.1:g.137239G>A, NM_024408.4:c.3389G>T, NM_024408.4:c.3389G>C, NM_024408.4:c.3389G>A, NM_024408.3:c.3389G>T, NM_024408.3:c.3389G>C, NM_024408.3:c.3389G>A, NM_001200001.2:c.3389G>T, NM_001200001.2:c.3389G>C, NM_001200001.2:c.3389G>A, NM_001200001.1:c.3389G>T, NM_001200001.1:c.3389G>C, NM_001200001.1:c.3389G>A, NC_000001.10:g.120480038C>A, NC_000001.10:g.120480038C>G, NC_000001.10:g.120480038C>T, NP_077719.2:p.Gly1130Val, NP_077719.2:p.Gly1130Ala, NP_077719.2:p.Gly1130Asp, NP_001186930.1:p.Gly1130Val, NP_001186930.1:p.Gly1130Ala, NP_001186930.1:p.Gly1130Asp

          5.

          rs1475072606 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:119935591 (GRCh38)
            1:120478214 (GRCh37)
            Canonical SPDI:
            NC_000001.11:119935590:T:C
            Gene:
            NOTCH2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:

            6.

            rs1475043862 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:119965471 (GRCh38)
              1:120508094 (GRCh37)
              Canonical SPDI:
              NC_000001.11:119965470:C:G,NC_000001.11:119965470:C:T
              Gene:
              NOTCH2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1474068965 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                1:119941645 (GRCh38)
                1:120484268 (GRCh37)
                Canonical SPDI:
                NC_000001.11:119941644:C:G,NC_000001.11:119941644:C:T
                Gene:
                NOTCH2 (Varview)
                Functional Consequence:
                synonymous_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:

                8.

                rs1472722495 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:119997298 (GRCh38)
                  1:120539921 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:119997297:A:G
                  Gene:
                  NOTCH2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1469318400 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    1:120005358 (GRCh38)
                    1:120547981 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:120005356:ATA:A
                    Gene:
                    NOTCH2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    -=0.000004/1 (GnomAD_exomes)
                    -=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1466339102 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      1:120005343 (GRCh38)
                      1:120547966 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:120005342:T:G
                      Gene:
                      NOTCH2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1465181496 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:119937937 (GRCh38)
                        1:120480560 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:119937936:T:C
                        Gene:
                        NOTCH2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1464974590 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:119997029 (GRCh38)
                          1:120539652 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:119997028:C:G
                          Gene:
                          NOTCH2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1456900277 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            1:119948505 (GRCh38)
                            1:120491128 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:119948504:G:A,NC_000001.11:119948504:G:C
                            Gene:
                            NOTCH2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000056/2 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1456398532 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              1:119941605 (GRCh38)
                              1:120484228 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:119941604:C:G,NC_000001.11:119941604:C:T
                              Gene:
                              NOTCH2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1453632125 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:119937963 (GRCh38)
                                1:120480586 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:119937962:A:G
                                Gene:
                                NOTCH2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1452646765 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:120069370 (GRCh38)
                                  1:120611984 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:120069369:G:A
                                  Gene:
                                  NOTCH2 (Varview), LOC101929178 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1451591017 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:120005413 (GRCh38)
                                    1:120548036 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:120005412:C:G
                                    Gene:
                                    NOTCH2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1449223049 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      1:119965529 (GRCh38)
                                      1:120508152 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:119965528:G:A,NC_000001.11:119965528:G:C
                                      Gene:
                                      NOTCH2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1448849716 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        1:119950751 (GRCh38)
                                        1:120493374 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:119950750:T:C,NC_000001.11:119950750:T:G
                                        Gene:
                                        NOTCH2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        G=0.003821/7 (Korea1K)
                                        HGVS:

                                        20.

                                        rs1447605154 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:119959440 (GRCh38)
                                          1:120502063 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:119959439:T:C
                                          Gene:
                                          NOTCH2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000034/9 (TOPMED)
                                          HGVS:

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