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Items: 1 to 20 of 674

1.

rs1488346615 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:20431269 (GRCh38)
    16:20442591 (GRCh37)
    Canonical SPDI:
    NC_000016.10:20431268:T:C
    Gene:
    ACSM5 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1484421876 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:20423983 (GRCh38)
      16:20435305 (GRCh37)
      Canonical SPDI:
      NC_000016.10:20423982:G:A
      Gene:
      ACSM5 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1481141371 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        16:20419251 (GRCh38)
        16:20430573 (GRCh37)
        Canonical SPDI:
        NC_000016.10:20419250:A:T
        Gene:
        ACSM5 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_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=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1477432718 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:20423955 (GRCh38)
          16:20435277 (GRCh37)
          Canonical SPDI:
          NC_000016.10:20423954:C:T
          Gene:
          ACSM5 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1475409516 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:20439809 (GRCh38)
            16:20451131 (GRCh37)
            Canonical SPDI:
            NC_000016.10:20439808:G:A
            Gene:
            ACSM5 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1470651282 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AGCTG>- [Show Flanks]
              Chromosome:
              16:20418135 (GRCh38)
              16:20429457 (GRCh37)
              Canonical SPDI:
              NC_000016.10:20418133:GAGCTG:G
              Gene:
              ACSM5 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1470029454 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:20440350 (GRCh38)
                16:20451672 (GRCh37)
                Canonical SPDI:
                NC_000016.10:20440349:T:C
                Gene:
                ACSM5 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000028/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1469160564 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:20431314 (GRCh38)
                  16:20442636 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:20431313:G:A
                  Gene:
                  ACSM5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1467707234 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:20437343 (GRCh38)
                    16:20448665 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:20437342:C:T
                    Gene:
                    ACSM5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                    HGVS:
                    10.

                    rs1466456178 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:20424012 (GRCh38)
                      16:20435334 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:20424011:T:C
                      Gene:
                      ACSM5 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1466355622 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:20431040 (GRCh38)
                        16:20442362 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:20431039:C:T
                        Gene:
                        ACSM5 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000084/1 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.00003/8 (TOPMED)
                        HGVS:
                        12.

                        rs1465042054 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:20424041 (GRCh38)
                          16:20435363 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:20424040:C:T
                          Gene:
                          ACSM5 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,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)
                          T=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1464944758 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:20431318 (GRCh38)
                            16:20442640 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:20431317:T:C
                            Gene:
                            ACSM5 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1463384198 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:20437167 (GRCh38)
                              16:20448489 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:20437166:T:C
                              Gene:
                              ACSM5 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1462536375 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                16:20411658 (GRCh38)
                                16:20422980 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:20411657:T:A
                                Gene:
                                ACSM5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0./0 (GnomAD)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1460674928 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  16:20419359 (GRCh38)
                                  16:20430681 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:20419358:T:G
                                  Gene:
                                  ACSM5 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1459489206 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    16:20419323 (GRCh38)
                                    16:20430645 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:20419322:T:G
                                    Gene:
                                    ACSM5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1458023814 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      16:20423991 (GRCh38)
                                      16:20435313 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:20423990:T:G
                                      Gene:
                                      ACSM5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1457526539 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TCTGGATCCATGGG>- [Show Flanks]
                                        Chromosome:
                                        16:20431032 (GRCh38)
                                        16:20442354 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:20431030:GTCTGGATCCATGGG:G
                                        Gene:
                                        ACSM5 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1456483599 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          16:20418218 (GRCh38)
                                          16:20429540 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:20418217:C:A
                                          Gene:
                                          ACSM5 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_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:

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