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Items: 1 to 20 of 165

1.

rs1490030121 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    12:27394495 (GRCh38)
    12:27547428 (GRCh37)
    Canonical SPDI:
    NC_000012.12:27394494:T:C
    Gene:
    ARNTL2 (Varview), ARNTL2-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000014/2 (GnomAD)
    C=0.000023/6 (TOPMED)
    HGVS:
    2.

    rs1489063134 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      12:27394503 (GRCh38)
      12:27547436 (GRCh37)
      Canonical SPDI:
      NC_000012.12:27394502:G:A,NC_000012.12:27394502:G:T
      Gene:
      ARNTL2 (Varview), ARNTL2-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1479012050 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:27389824 (GRCh38)
        12:27542757 (GRCh37)
        Canonical SPDI:
        NC_000012.12:27389823:T:C
        Gene:
        ARNTL2 (Varview), ARNTL2-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1478095312 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          12:27390156 (GRCh38)
          12:27543089 (GRCh37)
          Canonical SPDI:
          NC_000012.12:27390155:G:C
          Gene:
          ARNTL2 (Varview), ARNTL2-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.27390156G>C, NC_000012.11:g.27543089G>C, NG_030359.2:g.62303G>C, NM_020183.6:c.836G>C, NM_020183.5:c.836G>C, NM_020183.4:c.836G>C, NM_001248002.3:c.794G>C, NM_001248002.2:c.794G>C, NM_001248002.1:c.794G>C, NM_001248003.3:c.725G>C, NM_001248003.2:c.725G>C, NM_001248003.1:c.725G>C, NM_001248004.3:c.692G>C, NM_001248004.2:c.692G>C, NM_001248004.1:c.692G>C, NM_001248005.3:c.725G>C, NM_001248005.2:c.725G>C, NM_001248005.1:c.725G>C, NM_001394524.1:c.869G>C, NM_001394525.1:c.827G>C, NM_001394526.1:c.734G>C, NM_001394527.1:c.692G>C, NM_001394528.1:c.632G>C, NM_001394529.1:c.599G>C, XM_011520768.3:c.776G>C, XM_011520768.2:c.776G>C, XM_011520768.1:c.776G>C, XM_011520769.3:c.767G>C, XM_011520769.2:c.767G>C, XM_011520769.1:c.767G>C, XM_006719114.3:c.470G>C, XM_006719114.2:c.470G>C, XM_006719114.1:c.470G>C, XM_047429171.1:c.743G>C, XM_047429172.1:c.701G>C, XM_047429173.1:c.674G>C, XM_017019668.1:c.530G>C, XM_047429174.1:c.437G>C, XM_017019669.1:c.524G>C, NR_109975.1:n.446C>G, NP_064568.3:p.Arg279Thr, NP_001234931.1:p.Arg265Thr, NP_001234932.1:p.Arg242Thr, NP_001234933.1:p.Arg231Thr, NP_001234934.1:p.Arg242Thr, NP_001381453.1:p.Arg290Thr, NP_001381454.1:p.Arg276Thr, NP_001381455.1:p.Arg245Thr, NP_001381456.1:p.Arg231Thr, NP_001381457.1:p.Arg211Thr, NP_001381458.1:p.Arg200Thr, XP_011519070.1:p.Arg259Thr, XP_011519071.1:p.Arg256Thr, XP_006719177.1:p.Arg157Thr, XP_047285127.1:p.Arg248Thr, XP_047285128.1:p.Arg234Thr, XP_047285129.1:p.Arg225Thr, XP_016875157.1:p.Arg177Thr, XP_047285130.1:p.Arg146Thr, XP_016875158.1:p.Arg175Thr
          5.

          rs1474448686 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:27389832 (GRCh38)
            12:27542765 (GRCh37)
            Canonical SPDI:
            NC_000012.12:27389831:A:G
            Gene:
            ARNTL2 (Varview), ARNTL2-AS1 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000142/2 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000026/7 (TOPMED)
            HGVS:
            6.

            rs1474214081 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              12:27394474 (GRCh38)
              12:27547407 (GRCh37)
              Canonical SPDI:
              NC_000012.12:27394473:A:G
              Gene:
              ARNTL2 (Varview), ARNTL2-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1474175802 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                12:27390098 (GRCh38)
                12:27543031 (GRCh37)
                Canonical SPDI:
                NC_000012.12:27390097:G:A,NC_000012.12:27390097:G:T
                Gene:
                ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000012.12:g.27390098G>A, NC_000012.12:g.27390098G>T, NC_000012.11:g.27543031G>A, NC_000012.11:g.27543031G>T, NG_030359.2:g.62245G>A, NG_030359.2:g.62245G>T, NM_020183.6:c.778G>A, NM_020183.6:c.778G>T, NM_020183.5:c.778G>A, NM_020183.5:c.778G>T, NM_020183.4:c.778G>A, NM_020183.4:c.778G>T, NM_001248002.3:c.736G>A, NM_001248002.3:c.736G>T, NM_001248002.2:c.736G>A, NM_001248002.2:c.736G>T, NM_001248002.1:c.736G>A, NM_001248002.1:c.736G>T, NM_001248003.3:c.667G>A, NM_001248003.3:c.667G>T, NM_001248003.2:c.667G>A, NM_001248003.2:c.667G>T, NM_001248003.1:c.667G>A, NM_001248003.1:c.667G>T, NM_001248004.3:c.634G>A, NM_001248004.3:c.634G>T, NM_001248004.2:c.634G>A, NM_001248004.2:c.634G>T, NM_001248004.1:c.634G>A, NM_001248004.1:c.634G>T, NM_001248005.3:c.667G>A, NM_001248005.3:c.667G>T, NM_001248005.2:c.667G>A, NM_001248005.2:c.667G>T, NM_001248005.1:c.667G>A, NM_001248005.1:c.667G>T, NM_001394524.1:c.811G>A, NM_001394524.1:c.811G>T, NM_001394525.1:c.769G>A, NM_001394525.1:c.769G>T, NM_001394526.1:c.676G>A, NM_001394526.1:c.676G>T, NM_001394527.1:c.634G>A, NM_001394527.1:c.634G>T, NM_001394528.1:c.574G>A, NM_001394528.1:c.574G>T, NM_001394529.1:c.541G>A, NM_001394529.1:c.541G>T, XM_011520768.3:c.718G>A, XM_011520768.3:c.718G>T, XM_011520768.2:c.718G>A, XM_011520768.2:c.718G>T, XM_011520768.1:c.718G>A, XM_011520768.1:c.718G>T, XM_011520769.3:c.709G>A, XM_011520769.3:c.709G>T, XM_011520769.2:c.709G>A, XM_011520769.2:c.709G>T, XM_011520769.1:c.709G>A, XM_011520769.1:c.709G>T, XM_006719114.3:c.412G>A, XM_006719114.3:c.412G>T, XM_006719114.2:c.412G>A, XM_006719114.2:c.412G>T, XM_006719114.1:c.412G>A, XM_006719114.1:c.412G>T, XM_047429171.1:c.685G>A, XM_047429171.1:c.685G>T, XM_047429172.1:c.643G>A, XM_047429172.1:c.643G>T, XM_047429173.1:c.616G>A, XM_047429173.1:c.616G>T, XM_017019668.1:c.472G>A, XM_017019668.1:c.472G>T, XM_047429174.1:c.379G>A, XM_047429174.1:c.379G>T, XM_017019669.1:c.466G>A, XM_017019669.1:c.466G>T, NR_109975.1:n.504C>T, NR_109975.1:n.504C>A, NP_064568.3:p.Gly260Ser, NP_064568.3:p.Gly260Cys, NP_001234931.1:p.Gly246Ser, NP_001234931.1:p.Gly246Cys, NP_001234932.1:p.Gly223Ser, NP_001234932.1:p.Gly223Cys, NP_001234933.1:p.Gly212Ser, NP_001234933.1:p.Gly212Cys, NP_001234934.1:p.Gly223Ser, NP_001234934.1:p.Gly223Cys, NP_001381453.1:p.Gly271Ser, NP_001381453.1:p.Gly271Cys, NP_001381454.1:p.Gly257Ser, NP_001381454.1:p.Gly257Cys, NP_001381455.1:p.Gly226Ser, NP_001381455.1:p.Gly226Cys, NP_001381456.1:p.Gly212Ser, NP_001381456.1:p.Gly212Cys, NP_001381457.1:p.Gly192Ser, NP_001381457.1:p.Gly192Cys, NP_001381458.1:p.Gly181Ser, NP_001381458.1:p.Gly181Cys, XP_011519070.1:p.Gly240Ser, XP_011519070.1:p.Gly240Cys, XP_011519071.1:p.Gly237Ser, XP_011519071.1:p.Gly237Cys, XP_006719177.1:p.Gly138Ser, XP_006719177.1:p.Gly138Cys, XP_047285127.1:p.Gly229Ser, XP_047285127.1:p.Gly229Cys, XP_047285128.1:p.Gly215Ser, XP_047285128.1:p.Gly215Cys, XP_047285129.1:p.Gly206Ser, XP_047285129.1:p.Gly206Cys, XP_016875157.1:p.Gly158Ser, XP_016875157.1:p.Gly158Cys, XP_047285130.1:p.Gly127Ser, XP_047285130.1:p.Gly127Cys, XP_016875158.1:p.Gly156Ser, XP_016875158.1:p.Gly156Cys
                8.

                rs1470176829 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:27390408 (GRCh38)
                  12:27543341 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:27390407:A:G
                  Gene:
                  ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1469751391 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:27389885 (GRCh38)
                    12:27542818 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:27389884:A:G
                    Gene:
                    ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000043/6 (GnomAD)
                    G=0.000087/23 (TOPMED)
                    HGVS:
                    10.

                    rs1467502214 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      12:27389926 (GRCh38)
                      12:27542859 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:27389925:C:A
                      Gene:
                      ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1465106993 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:27390013 (GRCh38)
                        12:27542946 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:27390012:T:C
                        Gene:
                        ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1462804898 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          12:27390065 (GRCh38)
                          12:27542998 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:27390064:A:T
                          Gene:
                          ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1456035833 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:27389831 (GRCh38)
                            12:27542764 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:27389830:C:T
                            Gene:
                            ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000054/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            T=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1455104779 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:27446520 (GRCh38)
                              12:27599453 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:27446519:C:T
                              Gene:
                              SMCO2 (Varview), ARNTL2-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1454439188 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                12:27446546 (GRCh38)
                                12:27599479 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:27446545:C:G,NC_000012.12:27446545:C:T
                                Gene:
                                SMCO2 (Varview), ARNTL2-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1453932164 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  12:27389980 (GRCh38)
                                  12:27542913 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:27389979:T:A
                                  Gene:
                                  ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_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.

                                  rs1443996176 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:27394568 (GRCh38)
                                    12:27547501 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:27394567:A:G
                                    Gene:
                                    ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1442530341 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:27394542 (GRCh38)
                                      12:27547475 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:27394541:C:T
                                      Gene:
                                      ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000108/2 (ALFA)
                                      T=0.000026/7 (TOPMED)
                                      T=0.000036/5 (GnomAD)
                                      T=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1431582050 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        12:27394455 (GRCh38)
                                        12:27547389 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:27394455:C:CC
                                        Gene:
                                        ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CC=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1427539449 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:27389946 (GRCh38)
                                          12:27542879 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:27389945:C:G
                                          Gene:
                                          ARNTL2 (Varview), ARNTL2-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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