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Items: 1 to 20 of 265

1.

rs1488409651 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    3:139561015 (GRCh38)
    3:139279857 (GRCh37)
    Canonical SPDI:
    NC_000003.12:139561014:T:A,NC_000003.12:139561014:T:C
    Gene:
    NMNAT3 (Varview), COPB2-DT (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.139561015T>A, NC_000003.12:g.139561015T>C, NC_000003.11:g.139279857T>A, NC_000003.11:g.139279857T>C, NM_178177.5:c.643A>T, NM_178177.5:c.643A>G, NM_178177.4:c.643A>T, NM_178177.4:c.643A>G, NM_178177.3:c.643A>T, NM_178177.3:c.643A>G, NM_001200047.3:c.487A>T, NM_001200047.3:c.487A>G, NM_001200047.2:c.487A>T, NM_001200047.2:c.487A>G, NM_001200047.1:c.487A>T, NM_001200047.1:c.487A>G, NM_001320513.2:c.424A>T, NM_001320513.2:c.424A>G, NM_001320513.1:c.424A>T, NM_001320513.1:c.424A>G, NM_001320510.2:c.1036A>T, NM_001320510.2:c.1036A>G, NM_001320510.1:c.1036A>T, NM_001320510.1:c.1036A>G, NM_001320511.2:c.754A>T, NM_001320511.2:c.754A>G, NM_001320511.1:c.754A>T, NM_001320511.1:c.754A>G, NM_001320512.2:c.754A>T, NM_001320512.2:c.754A>G, NM_001320512.1:c.754A>T, NM_001320512.1:c.754A>G, NM_001401599.1:c.1036A>T, NM_001401599.1:c.1036A>G, NM_001401598.1:c.1036A>T, NM_001401598.1:c.1036A>G, NM_001401606.1:c.*368A>T, NM_001401606.1:c.*368A>G, NM_001401608.1:c.*368A>T, NM_001401608.1:c.*368A>G, NM_001401607.1:c.*368A>T, NM_001401607.1:c.*368A>G, NM_001363968.1:c.*368A>T, NM_001363968.1:c.*368A>G, NM_001401605.1:c.*368A>T, NM_001401605.1:c.*368A>G, NM_001401600.1:c.754A>T, NM_001401600.1:c.754A>G, NM_001401601.1:c.754A>T, NM_001401601.1:c.754A>G, NM_001401609.1:c.*368A>T, NM_001401609.1:c.*368A>G, NM_001401610.1:c.*368A>T, NM_001401610.1:c.*368A>G, NM_001401611.1:c.*368A>T, NM_001401611.1:c.*368A>G, NM_001401602.1:c.754A>T, NM_001401602.1:c.754A>G, NM_001401603.1:c.754A>T, NM_001401603.1:c.754A>G, NM_001401612.1:c.*368A>T, NM_001401612.1:c.*368A>G, NR_174944.1:n.930A>T, NR_174944.1:n.930A>G, NM_001401604.1:c.643A>T, NM_001401604.1:c.643A>G, NP_835471.1:p.Ser215Cys, NP_835471.1:p.Ser215Gly, NP_001186976.1:p.Ser163Cys, NP_001186976.1:p.Ser163Gly, NP_001307442.1:p.Ser142Cys, NP_001307442.1:p.Ser142Gly, NP_001307439.1:p.Ser346Cys, NP_001307439.1:p.Ser346Gly, NP_001307440.1:p.Ser252Cys, NP_001307440.1:p.Ser252Gly, NP_001307441.1:p.Ser252Cys, NP_001307441.1:p.Ser252Gly, NP_001388528.1:p.Ser346Cys, NP_001388528.1:p.Ser346Gly, NP_001388527.1:p.Ser346Cys, NP_001388527.1:p.Ser346Gly, NP_001388529.1:p.Ser252Cys, NP_001388529.1:p.Ser252Gly, NP_001388530.1:p.Ser252Cys, NP_001388530.1:p.Ser252Gly, NP_001388531.1:p.Ser252Cys, NP_001388531.1:p.Ser252Gly, NP_001388532.1:p.Ser252Cys, NP_001388532.1:p.Ser252Gly, NP_001388533.1:p.Ser215Cys, NP_001388533.1:p.Ser215Gly

    2.

    rs1476964545 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      3:139579008 (GRCh38)
      3:139297850 (GRCh37)
      Canonical SPDI:
      NC_000003.12:139579007:A:T
      Gene:
      NMNAT3 (Varview), COPB2-DT (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      HGVS:
      NC_000003.12:g.139579008A>T, NC_000003.11:g.139297850A>T, NM_178177.5:c.46T>A, NM_178177.4:c.46T>A, NM_178177.3:c.46T>A, NM_001320513.2:c.-586T>A, NM_001320513.1:c.-586T>A, NM_001320510.2:c.439T>A, NM_001320510.1:c.439T>A, NM_001320511.2:c.157T>A, NM_001320511.1:c.157T>A, NM_001320512.2:c.157T>A, NM_001320512.1:c.157T>A, NM_001401599.1:c.439T>A, NM_001401598.1:c.439T>A, NM_001401606.1:c.439T>A, NM_001401608.1:c.157T>A, NM_001401607.1:c.157T>A, NM_001363968.1:c.157T>A, NM_001401605.1:c.439T>A, NM_001401600.1:c.157T>A, NM_001401601.1:c.157T>A, NM_001401609.1:c.157T>A, NM_001401610.1:c.157T>A, NM_001401611.1:c.157T>A, NM_001401602.1:c.157T>A, NM_001401603.1:c.157T>A, NM_001401612.1:c.157T>A, NR_174944.1:n.416T>A, NM_001401604.1:c.46T>A, NP_835471.1:p.Tyr16Asn, NP_001307439.1:p.Tyr147Asn, NP_001307440.1:p.Tyr53Asn, NP_001307441.1:p.Tyr53Asn, NP_001388528.1:p.Tyr147Asn, NP_001388527.1:p.Tyr147Asn, NP_001388535.1:p.Tyr147Asn, NP_001388537.1:p.Tyr53Asn, NP_001388536.1:p.Tyr53Asn, NP_001350897.1:p.Tyr53Asn, NP_001388534.1:p.Tyr147Asn, NP_001388529.1:p.Tyr53Asn, NP_001388530.1:p.Tyr53Asn, NP_001388538.1:p.Tyr53Asn, NP_001388539.1:p.Tyr53Asn, NP_001388540.1:p.Tyr53Asn, NP_001388531.1:p.Tyr53Asn, NP_001388532.1:p.Tyr53Asn, NP_001388541.1:p.Tyr53Asn, NP_001388533.1:p.Tyr16Asn

      3.

      rs1476149554 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:139561140 (GRCh38)
        3:139279982 (GRCh37)
        Canonical SPDI:
        NC_000003.12:139561139:C:T
        Gene:
        NMNAT3 (Varview), COPB2-DT (Varview)
        Functional Consequence:
        3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000056/2 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000003.12:g.139561140C>T, NC_000003.11:g.139279982C>T, NM_178177.5:c.518G>A, NM_178177.4:c.518G>A, NM_178177.3:c.518G>A, NM_001200047.3:c.362G>A, NM_001200047.2:c.362G>A, NM_001200047.1:c.362G>A, NM_001320513.2:c.299G>A, NM_001320513.1:c.299G>A, NM_001320510.2:c.911G>A, NM_001320510.1:c.911G>A, NM_001320511.2:c.629G>A, NM_001320511.1:c.629G>A, NM_001320512.2:c.629G>A, NM_001320512.1:c.629G>A, NM_001401599.1:c.911G>A, NM_001401598.1:c.911G>A, NM_001401606.1:c.*243G>A, NM_001401608.1:c.*243G>A, NM_001401607.1:c.*243G>A, NM_001363968.1:c.*243G>A, NM_001401605.1:c.*243G>A, NM_001401600.1:c.629G>A, NM_001401601.1:c.629G>A, NM_001401609.1:c.*243G>A, NM_001401610.1:c.*243G>A, NM_001401611.1:c.*243G>A, NM_001401602.1:c.629G>A, NM_001401603.1:c.629G>A, NM_001401612.1:c.*243G>A, NR_174944.1:n.805G>A, NM_001401604.1:c.518G>A, NP_835471.1:p.Gly173Asp, NP_001186976.1:p.Gly121Asp, NP_001307442.1:p.Gly100Asp, NP_001307439.1:p.Gly304Asp, NP_001307440.1:p.Gly210Asp, NP_001307441.1:p.Gly210Asp, NP_001388528.1:p.Gly304Asp, NP_001388527.1:p.Gly304Asp, NP_001388529.1:p.Gly210Asp, NP_001388530.1:p.Gly210Asp, NP_001388531.1:p.Gly210Asp, NP_001388532.1:p.Gly210Asp, NP_001388533.1:p.Gly173Asp

        4.

        rs1475172974 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:139627674 (GRCh38)
          3:139346516 (GRCh37)
          Canonical SPDI:
          NC_000003.12:139627673:G:A
          Gene:
          NMNAT3 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
          HGVS:

          5.

          rs1475078136 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            3:139578964 (GRCh38)
            3:139297806 (GRCh37)
            Canonical SPDI:
            NC_000003.12:139578963:C:A
            Gene:
            NMNAT3 (Varview), COPB2-DT (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.139578964C>A, NC_000003.11:g.139297806C>A, NM_178177.5:c.90G>T, NM_178177.4:c.90G>T, NM_178177.3:c.90G>T, NM_001320513.2:c.-542G>T, NM_001320513.1:c.-542G>T, NM_001320510.2:c.483G>T, NM_001320510.1:c.483G>T, NM_001320511.2:c.201G>T, NM_001320511.1:c.201G>T, NM_001320512.2:c.201G>T, NM_001320512.1:c.201G>T, NM_001401599.1:c.483G>T, NM_001401598.1:c.483G>T, NM_001401606.1:c.483G>T, NM_001401608.1:c.201G>T, NM_001401607.1:c.201G>T, NM_001363968.1:c.201G>T, NM_001401605.1:c.483G>T, NM_001401600.1:c.201G>T, NM_001401601.1:c.201G>T, NM_001401609.1:c.201G>T, NM_001401610.1:c.201G>T, NM_001401611.1:c.201G>T, NM_001401602.1:c.201G>T, NM_001401603.1:c.201G>T, NM_001401612.1:c.201G>T, NR_174944.1:n.460G>T, NM_001401604.1:c.90G>T, NP_835471.1:p.Met30Ile, NP_001307439.1:p.Met161Ile, NP_001307440.1:p.Met67Ile, NP_001307441.1:p.Met67Ile, NP_001388528.1:p.Met161Ile, NP_001388527.1:p.Met161Ile, NP_001388535.1:p.Met161Ile, NP_001388537.1:p.Met67Ile, NP_001388536.1:p.Met67Ile, NP_001350897.1:p.Met67Ile, NP_001388534.1:p.Met161Ile, NP_001388529.1:p.Met67Ile, NP_001388530.1:p.Met67Ile, NP_001388538.1:p.Met67Ile, NP_001388539.1:p.Met67Ile, NP_001388540.1:p.Met67Ile, NP_001388531.1:p.Met67Ile, NP_001388532.1:p.Met67Ile, NP_001388541.1:p.Met67Ile, NP_001388533.1:p.Met30Ile

            6.

            rs1470926675 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:139561087 (GRCh38)
              3:139279929 (GRCh37)
              Canonical SPDI:
              NC_000003.12:139561086:T:C
              Gene:
              NMNAT3 (Varview), COPB2-DT (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000003.12:g.139561087T>C, NC_000003.11:g.139279929T>C, NM_178177.5:c.571A>G, NM_178177.4:c.571A>G, NM_178177.3:c.571A>G, NM_001200047.3:c.415A>G, NM_001200047.2:c.415A>G, NM_001200047.1:c.415A>G, NM_001320513.2:c.352A>G, NM_001320513.1:c.352A>G, NM_001320510.2:c.964A>G, NM_001320510.1:c.964A>G, NM_001320511.2:c.682A>G, NM_001320511.1:c.682A>G, NM_001320512.2:c.682A>G, NM_001320512.1:c.682A>G, NM_001401599.1:c.964A>G, NM_001401598.1:c.964A>G, NM_001401606.1:c.*296A>G, NM_001401608.1:c.*296A>G, NM_001401607.1:c.*296A>G, NM_001363968.1:c.*296A>G, NM_001401605.1:c.*296A>G, NM_001401600.1:c.682A>G, NM_001401601.1:c.682A>G, NM_001401609.1:c.*296A>G, NM_001401610.1:c.*296A>G, NM_001401611.1:c.*296A>G, NM_001401602.1:c.682A>G, NM_001401603.1:c.682A>G, NM_001401612.1:c.*296A>G, NR_174944.1:n.858A>G, NM_001401604.1:c.571A>G, NP_835471.1:p.Lys191Glu, NP_001186976.1:p.Lys139Glu, NP_001307442.1:p.Lys118Glu, NP_001307439.1:p.Lys322Glu, NP_001307440.1:p.Lys228Glu, NP_001307441.1:p.Lys228Glu, NP_001388528.1:p.Lys322Glu, NP_001388527.1:p.Lys322Glu, NP_001388529.1:p.Lys228Glu, NP_001388530.1:p.Lys228Glu, NP_001388531.1:p.Lys228Glu, NP_001388532.1:p.Lys228Glu, NP_001388533.1:p.Lys191Glu

              7.

              rs1455437821 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:139561290 (GRCh38)
                3:139280132 (GRCh37)
                Canonical SPDI:
                NC_000003.12:139561289:A:G
                Gene:
                NMNAT3 (Varview), COPB2-DT (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.139561290A>G, NC_000003.11:g.139280132A>G, NM_178177.5:c.368T>C, NM_178177.4:c.368T>C, NM_178177.3:c.368T>C, NM_001200047.3:c.212T>C, NM_001200047.2:c.212T>C, NM_001200047.1:c.212T>C, NM_001320513.2:c.149T>C, NM_001320513.1:c.149T>C, NM_001320510.2:c.761T>C, NM_001320510.1:c.761T>C, NM_001320511.2:c.479T>C, NM_001320511.1:c.479T>C, NM_001320512.2:c.479T>C, NM_001320512.1:c.479T>C, NM_001401599.1:c.761T>C, NM_001401598.1:c.761T>C, NM_001401606.1:c.*93T>C, NM_001401608.1:c.*93T>C, NM_001401607.1:c.*93T>C, NM_001363968.1:c.*93T>C, NM_001401605.1:c.*93T>C, NM_001401600.1:c.479T>C, NM_001401601.1:c.479T>C, NM_001401609.1:c.*93T>C, NM_001401610.1:c.*93T>C, NM_001401611.1:c.*93T>C, NM_001401602.1:c.479T>C, NM_001401603.1:c.479T>C, NM_001401612.1:c.*93T>C, NR_174944.1:n.655T>C, NM_001401604.1:c.368T>C, NP_835471.1:p.Phe123Ser, NP_001186976.1:p.Phe71Ser, NP_001307442.1:p.Phe50Ser, NP_001307439.1:p.Phe254Ser, NP_001307440.1:p.Phe160Ser, NP_001307441.1:p.Phe160Ser, NP_001388528.1:p.Phe254Ser, NP_001388527.1:p.Phe254Ser, NP_001388529.1:p.Phe160Ser, NP_001388530.1:p.Phe160Ser, NP_001388531.1:p.Phe160Ser, NP_001388532.1:p.Phe160Ser, NP_001388533.1:p.Phe123Ser

                8.

                rs1453434282 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  3:139627701 (GRCh38)
                  3:139346543 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:139627700:C:A
                  Gene:
                  NMNAT3 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                  HGVS:

                  9.

                  rs1453423284 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:139573628 (GRCh38)
                    3:139292470 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:139573627:G:A
                    Gene:
                    NMNAT3 (Varview), COPB2-DT (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_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:
                    NC_000003.12:g.139573628G>A, NC_000003.11:g.139292470G>A, NM_178177.5:c.235C>T, NM_178177.4:c.235C>T, NM_178177.3:c.235C>T, NM_001320513.2:c.16C>T, NM_001320513.1:c.16C>T, NM_001320510.2:c.628C>T, NM_001320510.1:c.628C>T, NM_001320511.2:c.346C>T, NM_001320511.1:c.346C>T, NM_001320512.2:c.346C>T, NM_001320512.1:c.346C>T, NM_001401599.1:c.628C>T, NM_001401598.1:c.628C>T, NM_001401608.1:c.346C>T, NM_001401607.1:c.346C>T, NM_001363968.1:c.346C>T, NM_001401600.1:c.346C>T, NM_001401601.1:c.346C>T, NM_001401602.1:c.346C>T, NM_001401603.1:c.346C>T, NM_001401604.1:c.235C>T, NP_835471.1:p.His79Tyr, NP_001307442.1:p.His6Tyr, NP_001307439.1:p.His210Tyr, NP_001307440.1:p.His116Tyr, NP_001307441.1:p.His116Tyr, NP_001388528.1:p.His210Tyr, NP_001388527.1:p.His210Tyr, NP_001388537.1:p.His116Tyr, NP_001388536.1:p.His116Tyr, NP_001350897.1:p.His116Tyr, NP_001388529.1:p.His116Tyr, NP_001388530.1:p.His116Tyr, NP_001388531.1:p.His116Tyr, NP_001388532.1:p.His116Tyr, NP_001388533.1:p.His79Tyr

                    10.

                    rs1453393282 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TCC>- [Show Flanks]
                      Chromosome:
                      3:139561296 (GRCh38)
                      3:139280138 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:139561294:CTCC:C
                      Gene:
                      NMNAT3 (Varview), COPB2-DT (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,inframe_deletion
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000008/2 (TOPMED)
                      -=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000003.12:g.139561296_139561298del, NC_000003.11:g.139280138_139280140del, NM_178177.5:c.361_363del, NM_178177.4:c.361_363del, NM_178177.3:c.361_363del, NM_001200047.3:c.205_207del, NM_001200047.2:c.205_207del, NM_001200047.1:c.205_207del, NM_001320513.2:c.142_144del, NM_001320513.1:c.142_144del, NM_001320510.2:c.754_756del, NM_001320510.1:c.754_756del, NM_001320511.2:c.472_474del, NM_001320511.1:c.472_474del, NM_001320512.2:c.472_474del, NM_001320512.1:c.472_474del, NM_001401599.1:c.754_756del, NM_001401598.1:c.754_756del, NM_001401606.1:c.*86_*88del, NM_001401608.1:c.*86_*88del, NM_001401607.1:c.*86_*88del, NM_001363968.1:c.*86_*88del, NM_001401605.1:c.*86_*88del, NM_001401600.1:c.472_474del, NM_001401601.1:c.472_474del, NM_001401609.1:c.*86_*88del, NM_001401610.1:c.*86_*88del, NM_001401611.1:c.*86_*88del, NM_001401602.1:c.472_474del, NM_001401603.1:c.472_474del, NM_001401612.1:c.*86_*88del, NR_174944.1:n.648_650del, NM_001401604.1:c.361_363del, NP_835471.1:p.Glu121del, NP_001186976.1:p.Glu69del, NP_001307442.1:p.Glu48del, NP_001307439.1:p.Glu252del, NP_001307440.1:p.Glu158del, NP_001307441.1:p.Glu158del, NP_001388528.1:p.Glu252del, NP_001388527.1:p.Glu252del, NP_001388529.1:p.Glu158del, NP_001388530.1:p.Glu158del, NP_001388531.1:p.Glu158del, NP_001388532.1:p.Glu158del, NP_001388533.1:p.Glu121del

                      11.

                      rs1450993415 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        3:139579024 (GRCh38)
                        3:139297866 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:139579023:A:C
                        Gene:
                        NMNAT3 (Varview), COPB2-DT (Varview)
                        Functional Consequence:
                        synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_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:

                        12.

                        rs1449645879 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:139578913 (GRCh38)
                          3:139297755 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:139578912:C:T
                          Gene:
                          NMNAT3 (Varview), COPB2-DT (Varview)
                          Functional Consequence:
                          synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1444659936 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            3:139578927 (GRCh38)
                            3:139297769 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:139578926:C:G,NC_000003.12:139578926:C:T
                            Gene:
                            NMNAT3 (Varview), COPB2-DT (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.139578927C>G, NC_000003.12:g.139578927C>T, NC_000003.11:g.139297769C>G, NC_000003.11:g.139297769C>T, NM_178177.5:c.127G>C, NM_178177.5:c.127G>A, NM_178177.4:c.127G>C, NM_178177.4:c.127G>A, NM_178177.3:c.127G>C, NM_178177.3:c.127G>A, NM_001320513.2:c.-505G>C, NM_001320513.2:c.-505G>A, NM_001320513.1:c.-505G>C, NM_001320513.1:c.-505G>A, NM_001320510.2:c.520G>C, NM_001320510.2:c.520G>A, NM_001320510.1:c.520G>C, NM_001320510.1:c.520G>A, NM_001320511.2:c.238G>C, NM_001320511.2:c.238G>A, NM_001320511.1:c.238G>C, NM_001320511.1:c.238G>A, NM_001320512.2:c.238G>C, NM_001320512.2:c.238G>A, NM_001320512.1:c.238G>C, NM_001320512.1:c.238G>A, NM_001401599.1:c.520G>C, NM_001401599.1:c.520G>A, NM_001401598.1:c.520G>C, NM_001401598.1:c.520G>A, NM_001401606.1:c.520G>C, NM_001401606.1:c.520G>A, NM_001401608.1:c.238G>C, NM_001401608.1:c.238G>A, NM_001401607.1:c.238G>C, NM_001401607.1:c.238G>A, NM_001363968.1:c.238G>C, NM_001363968.1:c.238G>A, NM_001401605.1:c.520G>C, NM_001401605.1:c.520G>A, NM_001401600.1:c.238G>C, NM_001401600.1:c.238G>A, NM_001401601.1:c.238G>C, NM_001401601.1:c.238G>A, NM_001401609.1:c.238G>C, NM_001401609.1:c.238G>A, NM_001401610.1:c.238G>C, NM_001401610.1:c.238G>A, NM_001401611.1:c.238G>C, NM_001401611.1:c.238G>A, NM_001401602.1:c.238G>C, NM_001401602.1:c.238G>A, NM_001401603.1:c.238G>C, NM_001401603.1:c.238G>A, NM_001401612.1:c.238G>C, NM_001401612.1:c.238G>A, NR_174944.1:n.497G>C, NR_174944.1:n.497G>A, NM_001401604.1:c.127G>C, NM_001401604.1:c.127G>A, NP_835471.1:p.Val43Leu, NP_835471.1:p.Val43Met, NP_001307439.1:p.Val174Leu, NP_001307439.1:p.Val174Met, NP_001307440.1:p.Val80Leu, NP_001307440.1:p.Val80Met, NP_001307441.1:p.Val80Leu, NP_001307441.1:p.Val80Met, NP_001388528.1:p.Val174Leu, NP_001388528.1:p.Val174Met, NP_001388527.1:p.Val174Leu, NP_001388527.1:p.Val174Met, NP_001388535.1:p.Val174Leu, NP_001388535.1:p.Val174Met, NP_001388537.1:p.Val80Leu, NP_001388537.1:p.Val80Met, NP_001388536.1:p.Val80Leu, NP_001388536.1:p.Val80Met, NP_001350897.1:p.Val80Leu, NP_001350897.1:p.Val80Met, NP_001388534.1:p.Val174Leu, NP_001388534.1:p.Val174Met, NP_001388529.1:p.Val80Leu, NP_001388529.1:p.Val80Met, NP_001388530.1:p.Val80Leu, NP_001388530.1:p.Val80Met, NP_001388538.1:p.Val80Leu, NP_001388538.1:p.Val80Met, NP_001388539.1:p.Val80Leu, NP_001388539.1:p.Val80Met, NP_001388540.1:p.Val80Leu, NP_001388540.1:p.Val80Met, NP_001388531.1:p.Val80Leu, NP_001388531.1:p.Val80Met, NP_001388532.1:p.Val80Leu, NP_001388532.1:p.Val80Met, NP_001388541.1:p.Val80Leu, NP_001388541.1:p.Val80Met, NP_001388533.1:p.Val43Leu, NP_001388533.1:p.Val43Met

                            14.

                            rs1444156614 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:139561367 (GRCh38)
                              3:139280209 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:139561366:A:G
                              Gene:
                              NMNAT3 (Varview), COPB2-DT (Varview)
                              Functional Consequence:
                              synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000003.12:g.139561367A>G, NC_000003.11:g.139280209A>G, NM_178177.5:c.291T>C, NM_178177.4:c.291T>C, NM_178177.3:c.291T>C, NM_001200047.3:c.135T>C, NM_001200047.2:c.135T>C, NM_001200047.1:c.135T>C, NM_001320513.2:c.72T>C, NM_001320513.1:c.72T>C, NM_001320510.2:c.684T>C, NM_001320510.1:c.684T>C, NM_001320511.2:c.402T>C, NM_001320511.1:c.402T>C, NM_001320512.2:c.402T>C, NM_001320512.1:c.402T>C, NM_001401599.1:c.684T>C, NM_001401598.1:c.684T>C, NM_001401606.1:c.*16T>C, NM_001401608.1:c.*16T>C, NM_001401607.1:c.*16T>C, NM_001363968.1:c.*16T>C, NM_001401605.1:c.*16T>C, NM_001401600.1:c.402T>C, NM_001401601.1:c.402T>C, NM_001401609.1:c.*16T>C, NM_001401610.1:c.*16T>C, NM_001401611.1:c.*16T>C, NM_001401602.1:c.402T>C, NM_001401603.1:c.402T>C, NM_001401612.1:c.*16T>C, NR_174944.1:n.578T>C, NM_001401604.1:c.291T>C

                              15.

                              rs1427087203 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                3:139627678 (GRCh38)
                                3:139346520 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:139627677:T:A
                                Gene:
                                NMNAT3 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.139627678T>A, NC_000003.11:g.139346520T>A, NM_001200047.3:c.47A>T, NM_001200047.2:c.47A>T, NM_001200047.1:c.47A>T, NM_001320513.2:c.-696A>T, NM_001320513.1:c.-696A>T, NM_001320510.2:c.47A>T, NM_001320510.1:c.47A>T, NM_001320511.2:c.47A>T, NM_001320511.1:c.47A>T, NM_001320512.2:c.47A>T, NM_001320512.1:c.47A>T, NM_001401599.1:c.47A>T, NM_001401598.1:c.47A>T, NM_001401606.1:c.47A>T, NM_001401608.1:c.47A>T, NM_001401607.1:c.47A>T, NM_001363968.1:c.47A>T, NM_001401605.1:c.47A>T, NM_001401600.1:c.47A>T, NM_001401601.1:c.47A>T, NM_001401609.1:c.47A>T, NM_001401610.1:c.47A>T, NM_001401611.1:c.47A>T, NM_001401602.1:c.47A>T, NM_001401603.1:c.47A>T, NM_001401612.1:c.47A>T, NP_001186976.1:p.Asn16Ile, NP_001307439.1:p.Asn16Ile, NP_001307440.1:p.Asn16Ile, NP_001307441.1:p.Asn16Ile, NP_001388528.1:p.Asn16Ile, NP_001388527.1:p.Asn16Ile, NP_001388535.1:p.Asn16Ile, NP_001388537.1:p.Asn16Ile, NP_001388536.1:p.Asn16Ile, NP_001350897.1:p.Asn16Ile, NP_001388534.1:p.Asn16Ile, NP_001388529.1:p.Asn16Ile, NP_001388530.1:p.Asn16Ile, NP_001388538.1:p.Asn16Ile, NP_001388539.1:p.Asn16Ile, NP_001388540.1:p.Asn16Ile, NP_001388531.1:p.Asn16Ile, NP_001388532.1:p.Asn16Ile, NP_001388541.1:p.Asn16Ile

                                16.

                                rs1421328219 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  3:139561183 (GRCh38)
                                  3:139280025 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:139561182:C:A
                                  Gene:
                                  NMNAT3 (Varview), COPB2-DT (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.139561183C>A, NC_000003.11:g.139280025C>A, NM_178177.5:c.475G>T, NM_178177.4:c.475G>T, NM_178177.3:c.475G>T, NM_001200047.3:c.319G>T, NM_001200047.2:c.319G>T, NM_001200047.1:c.319G>T, NM_001320513.2:c.256G>T, NM_001320513.1:c.256G>T, NM_001320510.2:c.868G>T, NM_001320510.1:c.868G>T, NM_001320511.2:c.586G>T, NM_001320511.1:c.586G>T, NM_001320512.2:c.586G>T, NM_001320512.1:c.586G>T, NM_001401599.1:c.868G>T, NM_001401598.1:c.868G>T, NM_001401606.1:c.*200G>T, NM_001401608.1:c.*200G>T, NM_001401607.1:c.*200G>T, NM_001363968.1:c.*200G>T, NM_001401605.1:c.*200G>T, NM_001401600.1:c.586G>T, NM_001401601.1:c.586G>T, NM_001401609.1:c.*200G>T, NM_001401610.1:c.*200G>T, NM_001401611.1:c.*200G>T, NM_001401602.1:c.586G>T, NM_001401603.1:c.586G>T, NM_001401612.1:c.*200G>T, NR_174944.1:n.762G>T, NM_001401604.1:c.475G>T, NP_835471.1:p.Val159Leu, NP_001186976.1:p.Val107Leu, NP_001307442.1:p.Val86Leu, NP_001307439.1:p.Val290Leu, NP_001307440.1:p.Val196Leu, NP_001307441.1:p.Val196Leu, NP_001388528.1:p.Val290Leu, NP_001388527.1:p.Val290Leu, NP_001388529.1:p.Val196Leu, NP_001388530.1:p.Val196Leu, NP_001388531.1:p.Val196Leu, NP_001388532.1:p.Val196Leu, NP_001388533.1:p.Val159Leu

                                  17.

                                  rs1418075283 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    GT>- [Show Flanks]
                                    Chromosome:
                                    3:139573606 (GRCh38)
                                    3:139292448 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:139573605:GT:
                                    Gene:
                                    NMNAT3 (Varview), COPB2-DT (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.139573606_139573607del, NC_000003.11:g.139292448_139292449del, NM_178177.5:c.256_257del, NM_178177.4:c.256_257del, NM_178177.3:c.256_257del, NM_001320513.2:c.37_38del, NM_001320513.1:c.37_38del, NM_001320510.2:c.649_650del, NM_001320510.1:c.649_650del, NM_001320511.2:c.367_368del, NM_001320511.1:c.367_368del, NM_001320512.2:c.367_368del, NM_001320512.1:c.367_368del, NM_001401599.1:c.649_650del, NM_001401598.1:c.649_650del, NM_001401608.1:c.367_368del, NM_001401607.1:c.367_368del, NM_001363968.1:c.367_368del, NM_001401600.1:c.367_368del, NM_001401601.1:c.367_368del, NM_001401602.1:c.367_368del, NM_001401603.1:c.367_368del, NM_001401604.1:c.256_257del, NP_835471.1:p.Thr86fs, NP_001307442.1:p.Thr13fs, NP_001307439.1:p.Thr217fs, NP_001307440.1:p.Thr123fs, NP_001307441.1:p.Thr123fs, NP_001388528.1:p.Thr217fs, NP_001388527.1:p.Thr217fs, NP_001388537.1:p.Thr123fs, NP_001388536.1:p.Thr123fs, NP_001350897.1:p.Thr123fs, NP_001388529.1:p.Thr123fs, NP_001388530.1:p.Thr123fs, NP_001388531.1:p.Thr123fs, NP_001388532.1:p.Thr123fs, NP_001388533.1:p.Thr86fs

                                    18.

                                    rs1413419967 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      3:139578934 (GRCh38)
                                      3:139297776 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:139578933:C:G
                                      Gene:
                                      NMNAT3 (Varview), COPB2-DT (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.139578934C>G, NC_000003.11:g.139297776C>G, NM_178177.5:c.120G>C, NM_178177.4:c.120G>C, NM_178177.3:c.120G>C, NM_001320513.2:c.-512G>C, NM_001320513.1:c.-512G>C, NM_001320510.2:c.513G>C, NM_001320510.1:c.513G>C, NM_001320511.2:c.231G>C, NM_001320511.1:c.231G>C, NM_001320512.2:c.231G>C, NM_001320512.1:c.231G>C, NM_001401599.1:c.513G>C, NM_001401598.1:c.513G>C, NM_001401606.1:c.513G>C, NM_001401608.1:c.231G>C, NM_001401607.1:c.231G>C, NM_001363968.1:c.231G>C, NM_001401605.1:c.513G>C, NM_001401600.1:c.231G>C, NM_001401601.1:c.231G>C, NM_001401609.1:c.231G>C, NM_001401610.1:c.231G>C, NM_001401611.1:c.231G>C, NM_001401602.1:c.231G>C, NM_001401603.1:c.231G>C, NM_001401612.1:c.231G>C, NR_174944.1:n.490G>C, NM_001401604.1:c.120G>C, NP_835471.1:p.Trp40Cys, NP_001307439.1:p.Trp171Cys, NP_001307440.1:p.Trp77Cys, NP_001307441.1:p.Trp77Cys, NP_001388528.1:p.Trp171Cys, NP_001388527.1:p.Trp171Cys, NP_001388535.1:p.Trp171Cys, NP_001388537.1:p.Trp77Cys, NP_001388536.1:p.Trp77Cys, NP_001350897.1:p.Trp77Cys, NP_001388534.1:p.Trp171Cys, NP_001388529.1:p.Trp77Cys, NP_001388530.1:p.Trp77Cys, NP_001388538.1:p.Trp77Cys, NP_001388539.1:p.Trp77Cys, NP_001388540.1:p.Trp77Cys, NP_001388531.1:p.Trp77Cys, NP_001388532.1:p.Trp77Cys, NP_001388541.1:p.Trp77Cys, NP_001388533.1:p.Trp40Cys

                                      19.

                                      rs1410298680 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        3:139561187 (GRCh38)
                                        3:139280029 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:139561186:C:A
                                        Gene:
                                        NMNAT3 (Varview), COPB2-DT (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.139561187C>A, NC_000003.11:g.139280029C>A, NM_178177.5:c.471G>T, NM_178177.4:c.471G>T, NM_178177.3:c.471G>T, NM_001200047.3:c.315G>T, NM_001200047.2:c.315G>T, NM_001200047.1:c.315G>T, NM_001320513.2:c.252G>T, NM_001320513.1:c.252G>T, NM_001320510.2:c.864G>T, NM_001320510.1:c.864G>T, NM_001320511.2:c.582G>T, NM_001320511.1:c.582G>T, NM_001320512.2:c.582G>T, NM_001320512.1:c.582G>T, NM_001401599.1:c.864G>T, NM_001401598.1:c.864G>T, NM_001401606.1:c.*196G>T, NM_001401608.1:c.*196G>T, NM_001401607.1:c.*196G>T, NM_001363968.1:c.*196G>T, NM_001401605.1:c.*196G>T, NM_001401600.1:c.582G>T, NM_001401601.1:c.582G>T, NM_001401609.1:c.*196G>T, NM_001401610.1:c.*196G>T, NM_001401611.1:c.*196G>T, NM_001401602.1:c.582G>T, NM_001401603.1:c.582G>T, NM_001401612.1:c.*196G>T, NR_174944.1:n.758G>T, NM_001401604.1:c.471G>T, NP_835471.1:p.Glu157Asp, NP_001186976.1:p.Glu105Asp, NP_001307442.1:p.Glu84Asp, NP_001307439.1:p.Glu288Asp, NP_001307440.1:p.Glu194Asp, NP_001307441.1:p.Glu194Asp, NP_001388528.1:p.Glu288Asp, NP_001388527.1:p.Glu288Asp, NP_001388529.1:p.Glu194Asp, NP_001388530.1:p.Glu194Asp, NP_001388531.1:p.Glu194Asp, NP_001388532.1:p.Glu194Asp, NP_001388533.1:p.Glu157Asp

                                        20.

                                        rs1409125389 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          3:139578917 (GRCh38)
                                          3:139297759 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:139578916:C:A
                                          Gene:
                                          NMNAT3 (Varview), COPB2-DT (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                          HGVS:
                                          NC_000003.12:g.139578917C>A, NC_000003.11:g.139297759C>A, NM_178177.5:c.137G>T, NM_178177.4:c.137G>T, NM_178177.3:c.137G>T, NM_001320513.2:c.-495G>T, NM_001320513.1:c.-495G>T, NM_001320510.2:c.530G>T, NM_001320510.1:c.530G>T, NM_001320511.2:c.248G>T, NM_001320511.1:c.248G>T, NM_001320512.2:c.248G>T, NM_001320512.1:c.248G>T, NM_001401599.1:c.530G>T, NM_001401598.1:c.530G>T, NM_001401606.1:c.530G>T, NM_001401608.1:c.248G>T, NM_001401607.1:c.248G>T, NM_001363968.1:c.248G>T, NM_001401605.1:c.530G>T, NM_001401600.1:c.248G>T, NM_001401601.1:c.248G>T, NM_001401609.1:c.248G>T, NM_001401610.1:c.248G>T, NM_001401611.1:c.248G>T, NM_001401602.1:c.248G>T, NM_001401603.1:c.248G>T, NM_001401612.1:c.248G>T, NR_174944.1:n.507G>T, NM_001401604.1:c.137G>T, NP_835471.1:p.Trp46Leu, NP_001307439.1:p.Trp177Leu, NP_001307440.1:p.Trp83Leu, NP_001307441.1:p.Trp83Leu, NP_001388528.1:p.Trp177Leu, NP_001388527.1:p.Trp177Leu, NP_001388535.1:p.Trp177Leu, NP_001388537.1:p.Trp83Leu, NP_001388536.1:p.Trp83Leu, NP_001350897.1:p.Trp83Leu, NP_001388534.1:p.Trp177Leu, NP_001388529.1:p.Trp83Leu, NP_001388530.1:p.Trp83Leu, NP_001388538.1:p.Trp83Leu, NP_001388539.1:p.Trp83Leu, NP_001388540.1:p.Trp83Leu, NP_001388531.1:p.Trp83Leu, NP_001388532.1:p.Trp83Leu, NP_001388541.1:p.Trp83Leu, NP_001388533.1:p.Trp46Leu

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