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Links from Protein

Items: 1 to 20 of 1371

1.

rs1489218522 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GCT [Show Flanks]
    Chromosome:
    16:3549769 (GRCh38)
    16:3599770 (GRCh37)
    Canonical SPDI:
    NC_000016.10:3549769:TGCT:TGCTGCT
    Gene:
    NLRC3 (Varview), LOC101929732 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,inframe_insertion
    Validated:
    by frequency
    MAF:
    TGC=0.000006/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1488906032 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      16:3552212 (GRCh38)
      16:3602212 (GRCh37)
      Canonical SPDI:
      NC_000016.10:3552211:T:A
      Gene:
      NLRC3 (Varview), LOC101929732 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
      HGVS:
      3.

      rs1488076029 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:3564860 (GRCh38)
        16:3614861 (GRCh37)
        Canonical SPDI:
        NC_000016.10:3564859:A:G
        Gene:
        NLRC3 (Varview), LOC124903632 (Varview)
        Functional Consequence:
        coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1487430489 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          16:3563319 (GRCh38)
          16:3613320 (GRCh37)
          Canonical SPDI:
          NC_000016.10:3563318:GG:G
          Gene:
          NLRC3 (Varview), LOC124903632 (Varview)
          Functional Consequence:
          frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          -=0.000005/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1485822874 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:3563085 (GRCh38)
            16:3613086 (GRCh37)
            Canonical SPDI:
            NC_000016.10:3563084:C:T
            Gene:
            NLRC3 (Varview), LOC124903632 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000006/1 (GnomAD_exomes)
            HGVS:
            7.

            rs1484989768 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:3548737 (GRCh38)
              16:3598737 (GRCh37)
              Canonical SPDI:
              NC_000016.10:3548736:G:A
              Gene:
              NLRC3 (Varview), LOC101929732 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000142/2 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000021/3 (GnomAD)
              HGVS:
              9.

              rs1483115743 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:3542221 (GRCh38)
                16:3592221 (GRCh37)
                Canonical SPDI:
                NC_000016.10:3542220:A:G
                Gene:
                NLRC3 (Varview), LOC101929732 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (GnomAD)
                HGVS:
                10.
                11.

                rs1482287097 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  16:3543429 (GRCh38)
                  16:3593429 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:3543428:G:T
                  Gene:
                  NLRC3 (Varview), LOC101929732 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  12.

                  rs1481838296 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:3544323 (GRCh38)
                    16:3594323 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:3544322:C:T
                    Gene:
                    NLRC3 (Varview), LOC101929732 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    14.

                    rs1480875045 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      16:3563642 (GRCh38)
                      16:3613643 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:3563641:C:A
                      Gene:
                      NLRC3 (Varview), LOC124903632 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      15.

                      rs1479736952 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        16:3563057 (GRCh38)
                        16:3613058 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:3563056:CCC:CC
                        Gene:
                        NLRC3 (Varview), LOC124903632 (Varview)
                        Functional Consequence:
                        frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CC=0./0 (ALFA)
                        -=0.000015/4 (TOPMED)
                        -=0.000021/3 (GnomAD)
                        HGVS:
                        17.

                        rs1478821833 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:3549705 (GRCh38)
                          16:3599705 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:3549704:G:A
                          Gene:
                          NLRC3 (Varview), LOC101929732 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by cluster
                          HGVS:
                          18.

                          rs1477480586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:3564349 (GRCh38)
                            16:3614350 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:3564348:C:T
                            Gene:
                            NLRC3 (Varview), LOC124903632 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            19.

                            rs1476963478 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:3561736 (GRCh38)
                              16:3611737 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:3561735:G:A
                              Gene:
                              NLRC3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000111/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              20.

                              rs1476695613 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:3563323 (GRCh38)
                                16:3613324 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:3563322:C:T
                                Gene:
                                NLRC3 (Varview), LOC124903632 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.00004/1 (TOMMO)
                                HGVS:

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