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Items: 1 to 20 of 662

1.

rs1489922996 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    19:18742930 (GRCh38)
    19:18853740 (GRCh37)
    Canonical SPDI:
    NC_000019.10:18742929:G:A,NC_000019.10:18742929:G:T
    Gene:
    CRTC1 (Varview)
    Functional Consequence:
    synonymous_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.18742930G>A, NC_000019.10:g.18742930G>T, NC_000019.9:g.18853740G>A, NC_000019.9:g.18853740G>T, XM_005259833.4:c.147G>A, XM_005259833.4:c.147G>T, XM_005259833.3:c.147G>A, XM_005259833.3:c.147G>T, XM_005259833.2:c.147G>A, XM_005259833.2:c.147G>T, XM_005259833.1:c.147G>A, XM_005259833.1:c.147G>T, XM_011527842.4:c.147G>A, XM_011527842.4:c.147G>T, XM_011527842.3:c.147G>A, XM_011527842.3:c.147G>T, XM_011527842.2:c.147G>A, XM_011527842.2:c.147G>T, XM_011527842.1:c.147G>A, XM_011527842.1:c.147G>T, XM_005259835.4:c.147G>A, XM_005259835.4:c.147G>T, XM_005259835.3:c.147G>A, XM_005259835.3:c.147G>T, XM_005259835.2:c.147G>A, XM_005259835.2:c.147G>T, XM_005259835.1:c.147G>A, XM_005259835.1:c.147G>T, XM_005259836.4:c.147G>A, XM_005259836.4:c.147G>T, XM_005259836.3:c.147G>A, XM_005259836.3:c.147G>T, XM_005259836.2:c.147G>A, XM_005259836.2:c.147G>T, XM_005259836.1:c.147G>A, XM_005259836.1:c.147G>T, XM_006722710.4:c.147G>A, XM_006722710.4:c.147G>T, XM_006722710.3:c.147G>A, XM_006722710.3:c.147G>T, XM_006722710.2:c.147G>A, XM_006722710.2:c.147G>T, XM_006722710.1:c.147G>A, XM_006722710.1:c.147G>T, NM_015321.3:c.147G>A, NM_015321.3:c.147G>T, NM_015321.2:c.147G>A, NM_015321.2:c.147G>T, XM_017026538.3:c.147G>A, XM_017026538.3:c.147G>T, XM_017026538.2:c.147G>A, XM_017026538.2:c.147G>T, XM_017026538.1:c.147G>A, XM_017026538.1:c.147G>T, NM_001098482.2:c.147G>A, NM_001098482.2:c.147G>T, NM_001098482.1:c.147G>A, NM_001098482.1:c.147G>T, XM_005259834.2:c.147G>A, XM_005259834.2:c.147G>T, XM_005259834.1:c.147G>A, XM_005259834.1:c.147G>T, XM_024451434.2:c.147G>A, XM_024451434.2:c.147G>T, XM_024451434.1:c.147G>A, XM_024451434.1:c.147G>T, XM_017026537.2:c.147G>A, XM_017026537.2:c.147G>T, XM_017026537.1:c.147G>A, XM_017026537.1:c.147G>T, XM_047438529.1:c.147G>A, XM_047438529.1:c.147G>T, XM_047438530.1:c.147G>A, XM_047438530.1:c.147G>T, XM_047438531.1:c.147G>A, XM_047438531.1:c.147G>T, XM_047438532.1:c.147G>A, XM_047438532.1:c.147G>T, NM_025021.1:c.147G>A, NM_025021.1:c.147G>T, XP_005259890.1:p.Gln49His, XP_011526144.1:p.Gln49His, XP_005259892.1:p.Gln49His, XP_005259893.1:p.Gln49His, XP_006722773.1:p.Gln49His, NP_056136.2:p.Gln49His, XP_016882027.1:p.Gln49His, NP_001091952.1:p.Gln49His, XP_005259891.1:p.Gln49His, XP_024307202.1:p.Gln49His, XP_016882026.1:p.Gln49His, XP_047294485.1:p.Gln49His, XP_047294486.1:p.Gln49His, XP_047294487.1:p.Gln49His, XP_047294488.1:p.Gln49His

    2.

    rs1489855889 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      19:18760089 (GRCh38)
      19:18870899 (GRCh37)
      Canonical SPDI:
      NC_000019.10:18760088:G:C
      Gene:
      CRTC1 (Varview)
      Functional Consequence:
      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000019.10:g.18760089G>C, NC_000019.9:g.18870899G>C, XM_005259833.4:c.795G>C, XM_005259833.3:c.795G>C, XM_005259833.2:c.795G>C, XM_005259833.1:c.795G>C, XM_011527842.4:c.795G>C, XM_011527842.3:c.795G>C, XM_011527842.2:c.795G>C, XM_011527842.1:c.795G>C, XM_005259835.4:c.795G>C, XM_005259835.3:c.795G>C, XM_005259835.2:c.795G>C, XM_005259835.1:c.795G>C, XM_005259836.4:c.795G>C, XM_005259836.3:c.795G>C, XM_005259836.2:c.795G>C, XM_005259836.1:c.795G>C, XM_006722710.4:c.795G>C, XM_006722710.3:c.795G>C, XM_006722710.2:c.795G>C, XM_006722710.1:c.795G>C, NM_015321.3:c.747G>C, NM_015321.2:c.747G>C, NM_001098482.2:c.795G>C, NM_001098482.1:c.795G>C, XM_005259834.2:c.747G>C, XM_005259834.1:c.747G>C, XM_024451434.2:c.747G>C, XM_024451434.1:c.747G>C, XM_017026537.2:c.795G>C, XM_017026537.1:c.795G>C, XM_047438529.1:c.747G>C, XM_047438530.1:c.747G>C, XM_047438531.1:c.747G>C, XM_047438532.1:c.747G>C, NM_025021.1:c.747G>C

      3.

      rs1488699328 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:18747106 (GRCh38)
        19:18857916 (GRCh37)
        Canonical SPDI:
        NC_000019.10:18747105:C:T
        Gene:
        CRTC1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000015/2 (GnomAD)
        HGVS:
        NC_000019.10:g.18747106C>T, NC_000019.9:g.18857916C>T, XM_005259833.4:c.483C>T, XM_005259833.3:c.483C>T, XM_005259833.2:c.483C>T, XM_005259833.1:c.483C>T, XM_011527842.4:c.483C>T, XM_011527842.3:c.483C>T, XM_011527842.2:c.483C>T, XM_011527842.1:c.483C>T, XM_005259835.4:c.483C>T, XM_005259835.3:c.483C>T, XM_005259835.2:c.483C>T, XM_005259835.1:c.483C>T, XM_005259836.4:c.483C>T, XM_005259836.3:c.483C>T, XM_005259836.2:c.483C>T, XM_005259836.1:c.483C>T, XM_006722710.4:c.483C>T, XM_006722710.3:c.483C>T, XM_006722710.2:c.483C>T, XM_006722710.1:c.483C>T, NM_015321.3:c.435C>T, NM_015321.2:c.435C>T, XM_017026538.3:c.483C>T, XM_017026538.2:c.483C>T, XM_017026538.1:c.483C>T, NM_001098482.2:c.483C>T, NM_001098482.1:c.483C>T, XM_005259834.2:c.435C>T, XM_005259834.1:c.435C>T, XM_024451434.2:c.435C>T, XM_024451434.1:c.435C>T, XM_017026537.2:c.483C>T, XM_017026537.1:c.483C>T, XM_047438529.1:c.435C>T, XM_047438530.1:c.435C>T, XM_047438531.1:c.435C>T, XM_047438532.1:c.435C>T, NM_025021.1:c.435C>T

        4.

        rs1488083630 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:18743010 (GRCh38)
          19:18853820 (GRCh37)
          Canonical SPDI:
          NC_000019.10:18743009:T:C
          Gene:
          CRTC1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.18743010T>C, NC_000019.9:g.18853820T>C, XM_005259833.4:c.227T>C, XM_005259833.3:c.227T>C, XM_005259833.2:c.227T>C, XM_005259833.1:c.227T>C, XM_011527842.4:c.227T>C, XM_011527842.3:c.227T>C, XM_011527842.2:c.227T>C, XM_011527842.1:c.227T>C, XM_005259835.4:c.227T>C, XM_005259835.3:c.227T>C, XM_005259835.2:c.227T>C, XM_005259835.1:c.227T>C, XM_005259836.4:c.227T>C, XM_005259836.3:c.227T>C, XM_005259836.2:c.227T>C, XM_005259836.1:c.227T>C, XM_006722710.4:c.227T>C, XM_006722710.3:c.227T>C, XM_006722710.2:c.227T>C, XM_006722710.1:c.227T>C, NM_015321.3:c.227T>C, NM_015321.2:c.227T>C, XM_017026538.3:c.227T>C, XM_017026538.2:c.227T>C, XM_017026538.1:c.227T>C, NM_001098482.2:c.227T>C, NM_001098482.1:c.227T>C, XM_005259834.2:c.227T>C, XM_005259834.1:c.227T>C, XM_024451434.2:c.227T>C, XM_024451434.1:c.227T>C, XM_017026537.2:c.227T>C, XM_017026537.1:c.227T>C, XM_047438529.1:c.227T>C, XM_047438530.1:c.227T>C, XM_047438531.1:c.227T>C, XM_047438532.1:c.227T>C, NM_025021.1:c.227T>C, XP_005259890.1:p.Met76Thr, XP_011526144.1:p.Met76Thr, XP_005259892.1:p.Met76Thr, XP_005259893.1:p.Met76Thr, XP_006722773.1:p.Met76Thr, NP_056136.2:p.Met76Thr, XP_016882027.1:p.Met76Thr, NP_001091952.1:p.Met76Thr, XP_005259891.1:p.Met76Thr, XP_024307202.1:p.Met76Thr, XP_016882026.1:p.Met76Thr, XP_047294485.1:p.Met76Thr, XP_047294486.1:p.Met76Thr, XP_047294487.1:p.Met76Thr, XP_047294488.1:p.Met76Thr

          5.

          rs1488077482 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            19:18768585 (GRCh38)
            19:18879395 (GRCh37)
            Canonical SPDI:
            NC_000019.10:18768584:C:G,NC_000019.10:18768584:C:T
            Gene:
            CRTC1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000006/1 (GnomAD_exomes)
            G=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000019.10:g.18768585C>G, NC_000019.10:g.18768585C>T, NC_000019.9:g.18879395C>G, NC_000019.9:g.18879395C>T, XM_005259833.4:c.1160C>G, XM_005259833.4:c.1160C>T, XM_005259833.3:c.1160C>G, XM_005259833.3:c.1160C>T, XM_005259833.2:c.1160C>G, XM_005259833.2:c.1160C>T, XM_005259833.1:c.1160C>G, XM_005259833.1:c.1160C>T, XM_011527842.4:c.1160C>G, XM_011527842.4:c.1160C>T, XM_011527842.3:c.1160C>G, XM_011527842.3:c.1160C>T, XM_011527842.2:c.1160C>G, XM_011527842.2:c.1160C>T, XM_011527842.1:c.1160C>G, XM_011527842.1:c.1160C>T, NM_015321.3:c.1112C>G, NM_015321.3:c.1112C>T, NM_015321.2:c.1112C>G, NM_015321.2:c.1112C>T, NM_001098482.2:c.1160C>G, NM_001098482.2:c.1160C>T, NM_001098482.1:c.1160C>G, NM_001098482.1:c.1160C>T, XM_005259834.2:c.1112C>G, XM_005259834.2:c.1112C>T, XM_005259834.1:c.1112C>G, XM_005259834.1:c.1112C>T, XM_017026537.2:c.1160C>G, XM_017026537.2:c.1160C>T, XM_017026537.1:c.1160C>G, XM_017026537.1:c.1160C>T, XM_047438529.1:c.1112C>G, XM_047438529.1:c.1112C>T, NM_025021.1:c.1112C>G, NM_025021.1:c.1112C>T, XP_005259890.1:p.Pro387Arg, XP_005259890.1:p.Pro387Leu, XP_011526144.1:p.Pro387Arg, XP_011526144.1:p.Pro387Leu, NP_056136.2:p.Pro371Arg, NP_056136.2:p.Pro371Leu, NP_001091952.1:p.Pro387Arg, NP_001091952.1:p.Pro387Leu, XP_005259891.1:p.Pro371Arg, XP_005259891.1:p.Pro371Leu, XP_016882026.1:p.Pro387Arg, XP_016882026.1:p.Pro387Leu, XP_047294485.1:p.Pro371Arg, XP_047294485.1:p.Pro371Leu

            6.

            rs1487645484 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              19:18777225 (GRCh38)
              19:18888035 (GRCh37)
              Canonical SPDI:
              NC_000019.10:18777224:G:C
              Gene:
              CRTC1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000084/1 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000019.10:g.18777225G>C, NC_000019.9:g.18888035G>C, XM_005259833.4:c.1709G>C, XM_005259833.3:c.1709G>C, XM_005259833.2:c.1709G>C, XM_005259833.1:c.1709G>C, XM_011527842.4:c.1691G>C, XM_011527842.3:c.1691G>C, XM_011527842.2:c.1691G>C, XM_011527842.1:c.1691G>C, XM_005259835.4:c.1538G>C, XM_005259835.3:c.1538G>C, XM_005259835.2:c.1538G>C, XM_005259835.1:c.1538G>C, XM_005259836.4:c.1433G>C, XM_005259836.3:c.1433G>C, XM_005259836.2:c.1433G>C, XM_005259836.1:c.1433G>C, XM_006722710.4:c.1382G>C, XM_006722710.3:c.1382G>C, XM_006722710.2:c.1382G>C, XM_006722710.1:c.1382G>C, NM_015321.3:c.1748G>C, NM_015321.2:c.1748G>C, NM_001098482.2:c.1796G>C, NM_001098482.1:c.1796G>C, XM_005259834.2:c.1661G>C, XM_005259834.1:c.1661G>C, XM_024451434.2:c.1334G>C, XM_024451434.1:c.1334G>C, XM_047438529.1:c.1643G>C, XM_047438530.1:c.1490G>C, XM_047438531.1:c.1403G>C, XM_047438532.1:c.1385G>C, XP_005259890.1:p.Gly570Ala, XP_011526144.1:p.Gly564Ala, XP_005259892.1:p.Gly513Ala, XP_005259893.1:p.Gly478Ala, XP_006722773.1:p.Gly461Ala, NP_056136.2:p.Gly583Ala, NP_001091952.1:p.Gly599Ala, XP_005259891.1:p.Gly554Ala, XP_024307202.1:p.Gly445Ala, XP_047294485.1:p.Gly548Ala, XP_047294486.1:p.Gly497Ala, XP_047294487.1:p.Gly468Ala, XP_047294488.1:p.Gly462Ala

              7.

              rs1487158056 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:18768510 (GRCh38)
                19:18879320 (GRCh37)
                Canonical SPDI:
                NC_000019.10:18768509:T:C
                Gene:
                CRTC1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1483100844 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  19:18683809 (GRCh38)
                  19:18794620 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:18683809:CC:CCC
                  Gene:
                  CRTC1 (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant
                  HGVS:
                  NC_000019.10:g.18683811dup, NC_000019.9:g.18794621dup, XM_005259833.4:c.109dup, XM_005259833.3:c.109dup, XM_005259833.2:c.109dup, XM_005259833.1:c.109dup, XM_011527842.4:c.109dup, XM_011527842.3:c.109dup, XM_011527842.2:c.109dup, XM_011527842.1:c.109dup, XM_005259835.4:c.109dup, XM_005259835.3:c.109dup, XM_005259835.2:c.109dup, XM_005259835.1:c.109dup, XM_005259836.4:c.109dup, XM_005259836.3:c.109dup, XM_005259836.2:c.109dup, XM_005259836.1:c.109dup, XM_006722710.4:c.109dup, XM_006722710.3:c.109dup, XM_006722710.2:c.109dup, XM_006722710.1:c.109dup, NM_015321.3:c.109dup, NM_015321.2:c.109dup, XM_017026538.3:c.109dup, XM_017026538.2:c.109dup, XM_017026538.1:c.109dup, NM_001098482.2:c.109dup, NM_001098482.1:c.109dup, XM_005259834.2:c.109dup, XM_005259834.1:c.109dup, XM_024451434.2:c.109dup, XM_024451434.1:c.109dup, XM_017026537.2:c.109dup, XM_017026537.1:c.109dup, XM_047438529.1:c.109dup, XM_047438530.1:c.109dup, XM_047438531.1:c.109dup, XM_047438532.1:c.109dup, NM_025021.1:c.109dup, XP_005259890.1:p.Leu37fs, XP_011526144.1:p.Leu37fs, XP_005259892.1:p.Leu37fs, XP_005259893.1:p.Leu37fs, XP_006722773.1:p.Leu37fs, NP_056136.2:p.Leu37fs, XP_016882027.1:p.Leu37fs, NP_001091952.1:p.Leu37fs, XP_005259891.1:p.Leu37fs, XP_024307202.1:p.Leu37fs, XP_016882026.1:p.Leu37fs, XP_047294485.1:p.Leu37fs, XP_047294486.1:p.Leu37fs, XP_047294487.1:p.Leu37fs, XP_047294488.1:p.Leu37fs

                  9.

                  rs1481988195 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GCC>- [Show Flanks]
                    Chromosome:
                    19:18768586 (GRCh38)
                    19:18879396 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:18768580:CCGCCGCC:CCGCC
                    Gene:
                    CRTC1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,inframe_deletion,intron_variant,coding_sequence_variant
                    HGVS:

                    10.

                    rs1479378151 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:18777283 (GRCh38)
                      19:18888093 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:18777282:C:T
                      Gene:
                      CRTC1 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000019.10:g.18777283C>T, NC_000019.9:g.18888093C>T, XM_005259833.4:c.1767C>T, XM_005259833.3:c.1767C>T, XM_005259833.2:c.1767C>T, XM_005259833.1:c.1767C>T, XM_011527842.4:c.1749C>T, XM_011527842.3:c.1749C>T, XM_011527842.2:c.1749C>T, XM_011527842.1:c.1749C>T, XM_005259835.4:c.1596C>T, XM_005259835.3:c.1596C>T, XM_005259835.2:c.1596C>T, XM_005259835.1:c.1596C>T, XM_005259836.4:c.1491C>T, XM_005259836.3:c.1491C>T, XM_005259836.2:c.1491C>T, XM_005259836.1:c.1491C>T, XM_006722710.4:c.1440C>T, XM_006722710.3:c.1440C>T, XM_006722710.2:c.1440C>T, XM_006722710.1:c.1440C>T, NM_015321.3:c.1806C>T, NM_015321.2:c.1806C>T, NM_001098482.2:c.1854C>T, NM_001098482.1:c.1854C>T, XM_005259834.2:c.1719C>T, XM_005259834.1:c.1719C>T, XM_024451434.2:c.1392C>T, XM_024451434.1:c.1392C>T, XM_047438529.1:c.1701C>T, XM_047438530.1:c.1548C>T, XM_047438531.1:c.1461C>T, XM_047438532.1:c.1443C>T

                      11.

                      rs1479341003 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:18760208 (GRCh38)
                        19:18871018 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:18760207:G:A
                        Gene:
                        CRTC1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000019.10:g.18760208G>A, NC_000019.9:g.18871018G>A, XM_005259833.4:c.914G>A, XM_005259833.3:c.914G>A, XM_005259833.2:c.914G>A, XM_005259833.1:c.914G>A, XM_011527842.4:c.914G>A, XM_011527842.3:c.914G>A, XM_011527842.2:c.914G>A, XM_011527842.1:c.914G>A, XM_005259835.4:c.914G>A, XM_005259835.3:c.914G>A, XM_005259835.2:c.914G>A, XM_005259835.1:c.914G>A, XM_005259836.4:c.914G>A, XM_005259836.3:c.914G>A, XM_005259836.2:c.914G>A, XM_005259836.1:c.914G>A, XM_006722710.4:c.914G>A, XM_006722710.3:c.914G>A, XM_006722710.2:c.914G>A, XM_006722710.1:c.914G>A, NM_015321.3:c.866G>A, NM_015321.2:c.866G>A, NM_001098482.2:c.914G>A, NM_001098482.1:c.914G>A, XM_005259834.2:c.866G>A, XM_005259834.1:c.866G>A, XM_024451434.2:c.866G>A, XM_024451434.1:c.866G>A, XM_017026537.2:c.914G>A, XM_017026537.1:c.914G>A, XM_047438529.1:c.866G>A, XM_047438530.1:c.866G>A, XM_047438531.1:c.866G>A, XM_047438532.1:c.866G>A, NM_025021.1:c.866G>A, XP_005259890.1:p.Gly305Asp, XP_011526144.1:p.Gly305Asp, XP_005259892.1:p.Gly305Asp, XP_005259893.1:p.Gly305Asp, XP_006722773.1:p.Gly305Asp, NP_056136.2:p.Gly289Asp, NP_001091952.1:p.Gly305Asp, XP_005259891.1:p.Gly289Asp, XP_024307202.1:p.Gly289Asp, XP_016882026.1:p.Gly305Asp, XP_047294485.1:p.Gly289Asp, XP_047294486.1:p.Gly289Asp, XP_047294487.1:p.Gly289Asp, XP_047294488.1:p.Gly289Asp

                        12.

                        rs1478569423 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          19:18777364 (GRCh38)
                          19:18888174 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:18777363:C:A,NC_000019.10:18777363:C:G,NC_000019.10:18777363:C:T
                          Gene:
                          CRTC1 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000019.10:g.18777364C>A, NC_000019.10:g.18777364C>G, NC_000019.10:g.18777364C>T, NC_000019.9:g.18888174C>A, NC_000019.9:g.18888174C>G, NC_000019.9:g.18888174C>T, XM_005259833.4:c.1848C>A, XM_005259833.4:c.1848C>G, XM_005259833.4:c.1848C>T, XM_005259833.3:c.1848C>A, XM_005259833.3:c.1848C>G, XM_005259833.3:c.1848C>T, XM_005259833.2:c.1848C>A, XM_005259833.2:c.1848C>G, XM_005259833.2:c.1848C>T, XM_005259833.1:c.1848C>A, XM_005259833.1:c.1848C>G, XM_005259833.1:c.1848C>T, XM_011527842.4:c.1830C>A, XM_011527842.4:c.1830C>G, XM_011527842.4:c.1830C>T, XM_011527842.3:c.1830C>A, XM_011527842.3:c.1830C>G, XM_011527842.3:c.1830C>T, XM_011527842.2:c.1830C>A, XM_011527842.2:c.1830C>G, XM_011527842.2:c.1830C>T, XM_011527842.1:c.1830C>A, XM_011527842.1:c.1830C>G, XM_011527842.1:c.1830C>T, XM_005259835.4:c.1677C>A, XM_005259835.4:c.1677C>G, XM_005259835.4:c.1677C>T, XM_005259835.3:c.1677C>A, XM_005259835.3:c.1677C>G, XM_005259835.3:c.1677C>T, XM_005259835.2:c.1677C>A, XM_005259835.2:c.1677C>G, XM_005259835.2:c.1677C>T, XM_005259835.1:c.1677C>A, XM_005259835.1:c.1677C>G, XM_005259835.1:c.1677C>T, XM_005259836.4:c.1572C>A, XM_005259836.4:c.1572C>G, XM_005259836.4:c.1572C>T, XM_005259836.3:c.1572C>A, XM_005259836.3:c.1572C>G, XM_005259836.3:c.1572C>T, XM_005259836.2:c.1572C>A, XM_005259836.2:c.1572C>G, XM_005259836.2:c.1572C>T, XM_005259836.1:c.1572C>A, XM_005259836.1:c.1572C>G, XM_005259836.1:c.1572C>T, XM_006722710.4:c.1521C>A, XM_006722710.4:c.1521C>G, XM_006722710.4:c.1521C>T, XM_006722710.3:c.1521C>A, XM_006722710.3:c.1521C>G, XM_006722710.3:c.1521C>T, XM_006722710.2:c.1521C>A, XM_006722710.2:c.1521C>G, XM_006722710.2:c.1521C>T, XM_006722710.1:c.1521C>A, XM_006722710.1:c.1521C>G, XM_006722710.1:c.1521C>T, NM_015321.3:c.1887C>A, NM_015321.3:c.1887C>G, NM_015321.3:c.1887C>T, NM_015321.2:c.1887C>A, NM_015321.2:c.1887C>G, NM_015321.2:c.1887C>T, NM_001098482.2:c.1935C>A, NM_001098482.2:c.1935C>G, NM_001098482.2:c.1935C>T, NM_001098482.1:c.1935C>A, NM_001098482.1:c.1935C>G, NM_001098482.1:c.1935C>T, XM_005259834.2:c.1800C>A, XM_005259834.2:c.1800C>G, XM_005259834.2:c.1800C>T, XM_005259834.1:c.1800C>A, XM_005259834.1:c.1800C>G, XM_005259834.1:c.1800C>T, XM_024451434.2:c.1473C>A, XM_024451434.2:c.1473C>G, XM_024451434.2:c.1473C>T, XM_024451434.1:c.1473C>A, XM_024451434.1:c.1473C>G, XM_024451434.1:c.1473C>T, XM_047438529.1:c.1782C>A, XM_047438529.1:c.1782C>G, XM_047438529.1:c.1782C>T, XM_047438530.1:c.1629C>A, XM_047438530.1:c.1629C>G, XM_047438530.1:c.1629C>T, XM_047438531.1:c.1542C>A, XM_047438531.1:c.1542C>G, XM_047438531.1:c.1542C>T, XM_047438532.1:c.1524C>A, XM_047438532.1:c.1524C>G, XM_047438532.1:c.1524C>T, NM_025021.1:c.1666C>A, NM_025021.1:c.1666C>G, NM_025021.1:c.1666C>T, XP_005259890.1:p.Phe616Leu, XP_005259890.1:p.Phe616Leu, XP_011526144.1:p.Phe610Leu, XP_011526144.1:p.Phe610Leu, XP_005259892.1:p.Phe559Leu, XP_005259892.1:p.Phe559Leu, XP_005259893.1:p.Phe524Leu, XP_005259893.1:p.Phe524Leu, XP_006722773.1:p.Phe507Leu, XP_006722773.1:p.Phe507Leu, NP_056136.2:p.Phe629Leu, NP_056136.2:p.Phe629Leu, NP_001091952.1:p.Phe645Leu, NP_001091952.1:p.Phe645Leu, XP_005259891.1:p.Phe600Leu, XP_005259891.1:p.Phe600Leu, XP_024307202.1:p.Phe491Leu, XP_024307202.1:p.Phe491Leu, XP_047294485.1:p.Phe594Leu, XP_047294485.1:p.Phe594Leu, XP_047294486.1:p.Phe543Leu, XP_047294486.1:p.Phe543Leu, XP_047294487.1:p.Phe514Leu, XP_047294487.1:p.Phe514Leu, XP_047294488.1:p.Phe508Leu, XP_047294488.1:p.Phe508Leu

                          13.

                          rs1478283969 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            19:18760098 (GRCh38)
                            19:18870908 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:18760097:C:A
                            Gene:
                            CRTC1 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.00006/1 (TOMMO)
                            HGVS:
                            NC_000019.10:g.18760098C>A, NC_000019.9:g.18870908C>A, XM_005259833.4:c.804C>A, XM_005259833.3:c.804C>A, XM_005259833.2:c.804C>A, XM_005259833.1:c.804C>A, XM_011527842.4:c.804C>A, XM_011527842.3:c.804C>A, XM_011527842.2:c.804C>A, XM_011527842.1:c.804C>A, XM_005259835.4:c.804C>A, XM_005259835.3:c.804C>A, XM_005259835.2:c.804C>A, XM_005259835.1:c.804C>A, XM_005259836.4:c.804C>A, XM_005259836.3:c.804C>A, XM_005259836.2:c.804C>A, XM_005259836.1:c.804C>A, XM_006722710.4:c.804C>A, XM_006722710.3:c.804C>A, XM_006722710.2:c.804C>A, XM_006722710.1:c.804C>A, NM_015321.3:c.756C>A, NM_015321.2:c.756C>A, NM_001098482.2:c.804C>A, NM_001098482.1:c.804C>A, XM_005259834.2:c.756C>A, XM_005259834.1:c.756C>A, XM_024451434.2:c.756C>A, XM_024451434.1:c.756C>A, XM_017026537.2:c.804C>A, XM_017026537.1:c.804C>A, XM_047438529.1:c.756C>A, XM_047438530.1:c.756C>A, XM_047438531.1:c.756C>A, XM_047438532.1:c.756C>A, NM_025021.1:c.756C>A

                            14.

                            rs1476800570 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:18768591 (GRCh38)
                              19:18879401 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:18768590:C:T
                              Gene:
                              CRTC1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1476353345 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                19:18743018 (GRCh38)
                                19:18853828 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:18743017:C:A,NC_000019.10:18743017:C:T
                                Gene:
                                CRTC1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000019.10:g.18743018C>A, NC_000019.10:g.18743018C>T, NC_000019.9:g.18853828C>A, NC_000019.9:g.18853828C>T, XM_005259833.4:c.235C>A, XM_005259833.4:c.235C>T, XM_005259833.3:c.235C>A, XM_005259833.3:c.235C>T, XM_005259833.2:c.235C>A, XM_005259833.2:c.235C>T, XM_005259833.1:c.235C>A, XM_005259833.1:c.235C>T, XM_011527842.4:c.235C>A, XM_011527842.4:c.235C>T, XM_011527842.3:c.235C>A, XM_011527842.3:c.235C>T, XM_011527842.2:c.235C>A, XM_011527842.2:c.235C>T, XM_011527842.1:c.235C>A, XM_011527842.1:c.235C>T, XM_005259835.4:c.235C>A, XM_005259835.4:c.235C>T, XM_005259835.3:c.235C>A, XM_005259835.3:c.235C>T, XM_005259835.2:c.235C>A, XM_005259835.2:c.235C>T, XM_005259835.1:c.235C>A, XM_005259835.1:c.235C>T, XM_005259836.4:c.235C>A, XM_005259836.4:c.235C>T, XM_005259836.3:c.235C>A, XM_005259836.3:c.235C>T, XM_005259836.2:c.235C>A, XM_005259836.2:c.235C>T, XM_005259836.1:c.235C>A, XM_005259836.1:c.235C>T, XM_006722710.4:c.235C>A, XM_006722710.4:c.235C>T, XM_006722710.3:c.235C>A, XM_006722710.3:c.235C>T, XM_006722710.2:c.235C>A, XM_006722710.2:c.235C>T, XM_006722710.1:c.235C>A, XM_006722710.1:c.235C>T, NM_015321.3:c.235C>A, NM_015321.3:c.235C>T, NM_015321.2:c.235C>A, NM_015321.2:c.235C>T, XM_017026538.3:c.235C>A, XM_017026538.3:c.235C>T, XM_017026538.2:c.235C>A, XM_017026538.2:c.235C>T, XM_017026538.1:c.235C>A, XM_017026538.1:c.235C>T, NM_001098482.2:c.235C>A, NM_001098482.2:c.235C>T, NM_001098482.1:c.235C>A, NM_001098482.1:c.235C>T, XM_005259834.2:c.235C>A, XM_005259834.2:c.235C>T, XM_005259834.1:c.235C>A, XM_005259834.1:c.235C>T, XM_024451434.2:c.235C>A, XM_024451434.2:c.235C>T, XM_024451434.1:c.235C>A, XM_024451434.1:c.235C>T, XM_017026537.2:c.235C>A, XM_017026537.2:c.235C>T, XM_017026537.1:c.235C>A, XM_017026537.1:c.235C>T, XM_047438529.1:c.235C>A, XM_047438529.1:c.235C>T, XM_047438530.1:c.235C>A, XM_047438530.1:c.235C>T, XM_047438531.1:c.235C>A, XM_047438531.1:c.235C>T, XM_047438532.1:c.235C>A, XM_047438532.1:c.235C>T, NM_025021.1:c.235C>A, NM_025021.1:c.235C>T, XP_005259890.1:p.Pro79Thr, XP_005259890.1:p.Pro79Ser, XP_011526144.1:p.Pro79Thr, XP_011526144.1:p.Pro79Ser, XP_005259892.1:p.Pro79Thr, XP_005259892.1:p.Pro79Ser, XP_005259893.1:p.Pro79Thr, XP_005259893.1:p.Pro79Ser, XP_006722773.1:p.Pro79Thr, XP_006722773.1:p.Pro79Ser, NP_056136.2:p.Pro79Thr, NP_056136.2:p.Pro79Ser, XP_016882027.1:p.Pro79Thr, XP_016882027.1:p.Pro79Ser, NP_001091952.1:p.Pro79Thr, NP_001091952.1:p.Pro79Ser, XP_005259891.1:p.Pro79Thr, XP_005259891.1:p.Pro79Ser, XP_024307202.1:p.Pro79Thr, XP_024307202.1:p.Pro79Ser, XP_016882026.1:p.Pro79Thr, XP_016882026.1:p.Pro79Ser, XP_047294485.1:p.Pro79Thr, XP_047294485.1:p.Pro79Ser, XP_047294486.1:p.Pro79Thr, XP_047294486.1:p.Pro79Ser, XP_047294487.1:p.Pro79Thr, XP_047294487.1:p.Pro79Ser, XP_047294488.1:p.Pro79Thr, XP_047294488.1:p.Pro79Ser

                                16.

                                rs1475910488 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:18777181 (GRCh38)
                                  19:18887991 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:18777180:G:A
                                  Gene:
                                  CRTC1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.18777181G>A, NC_000019.9:g.18887991G>A, XM_005259833.4:c.1665G>A, XM_005259833.3:c.1665G>A, XM_005259833.2:c.1665G>A, XM_005259833.1:c.1665G>A, XM_011527842.4:c.1647G>A, XM_011527842.3:c.1647G>A, XM_011527842.2:c.1647G>A, XM_011527842.1:c.1647G>A, XM_005259835.4:c.1494G>A, XM_005259835.3:c.1494G>A, XM_005259835.2:c.1494G>A, XM_005259835.1:c.1494G>A, XM_005259836.4:c.1389G>A, XM_005259836.3:c.1389G>A, XM_005259836.2:c.1389G>A, XM_005259836.1:c.1389G>A, XM_006722710.4:c.1338G>A, XM_006722710.3:c.1338G>A, XM_006722710.2:c.1338G>A, XM_006722710.1:c.1338G>A, NM_015321.3:c.1704G>A, NM_015321.2:c.1704G>A, NM_001098482.2:c.1752G>A, NM_001098482.1:c.1752G>A, XM_005259834.2:c.1617G>A, XM_005259834.1:c.1617G>A, XM_024451434.2:c.1290G>A, XM_024451434.1:c.1290G>A, XM_047438529.1:c.1599G>A, XM_047438530.1:c.1446G>A, XM_047438531.1:c.1359G>A, XM_047438532.1:c.1341G>A, NM_025021.1:c.1617G>A

                                  17.

                                  rs1471566700 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:18760202 (GRCh38)
                                    19:18871012 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:18760201:A:G
                                    Gene:
                                    CRTC1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000057/2 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.18760202A>G, NC_000019.9:g.18871012A>G, XM_005259833.4:c.908A>G, XM_005259833.3:c.908A>G, XM_005259833.2:c.908A>G, XM_005259833.1:c.908A>G, XM_011527842.4:c.908A>G, XM_011527842.3:c.908A>G, XM_011527842.2:c.908A>G, XM_011527842.1:c.908A>G, XM_005259835.4:c.908A>G, XM_005259835.3:c.908A>G, XM_005259835.2:c.908A>G, XM_005259835.1:c.908A>G, XM_005259836.4:c.908A>G, XM_005259836.3:c.908A>G, XM_005259836.2:c.908A>G, XM_005259836.1:c.908A>G, XM_006722710.4:c.908A>G, XM_006722710.3:c.908A>G, XM_006722710.2:c.908A>G, XM_006722710.1:c.908A>G, NM_015321.3:c.860A>G, NM_015321.2:c.860A>G, NM_001098482.2:c.908A>G, NM_001098482.1:c.908A>G, XM_005259834.2:c.860A>G, XM_005259834.1:c.860A>G, XM_024451434.2:c.860A>G, XM_024451434.1:c.860A>G, XM_017026537.2:c.908A>G, XM_017026537.1:c.908A>G, XM_047438529.1:c.860A>G, XM_047438530.1:c.860A>G, XM_047438531.1:c.860A>G, XM_047438532.1:c.860A>G, NM_025021.1:c.860A>G, XP_005259890.1:p.His303Arg, XP_011526144.1:p.His303Arg, XP_005259892.1:p.His303Arg, XP_005259893.1:p.His303Arg, XP_006722773.1:p.His303Arg, NP_056136.2:p.His287Arg, NP_001091952.1:p.His303Arg, XP_005259891.1:p.His287Arg, XP_024307202.1:p.His287Arg, XP_016882026.1:p.His303Arg, XP_047294485.1:p.His287Arg, XP_047294486.1:p.His287Arg, XP_047294487.1:p.His287Arg, XP_047294488.1:p.His287Arg

                                    18.

                                    rs1471254436 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      19:18745900 (GRCh38)
                                      19:18856710 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:18745899:G:C
                                      Gene:
                                      CRTC1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.18745900G>C, NC_000019.9:g.18856710G>C, XM_005259833.4:c.369G>C, XM_005259833.3:c.369G>C, XM_005259833.2:c.369G>C, XM_005259833.1:c.369G>C, XM_011527842.4:c.369G>C, XM_011527842.3:c.369G>C, XM_011527842.2:c.369G>C, XM_011527842.1:c.369G>C, XM_005259835.4:c.369G>C, XM_005259835.3:c.369G>C, XM_005259835.2:c.369G>C, XM_005259835.1:c.369G>C, XM_005259836.4:c.369G>C, XM_005259836.3:c.369G>C, XM_005259836.2:c.369G>C, XM_005259836.1:c.369G>C, XM_006722710.4:c.369G>C, XM_006722710.3:c.369G>C, XM_006722710.2:c.369G>C, XM_006722710.1:c.369G>C, NM_015321.3:c.321G>C, NM_015321.2:c.321G>C, XM_017026538.3:c.369G>C, XM_017026538.2:c.369G>C, XM_017026538.1:c.369G>C, NM_001098482.2:c.369G>C, NM_001098482.1:c.369G>C, XM_005259834.2:c.321G>C, XM_005259834.1:c.321G>C, XM_024451434.2:c.321G>C, XM_024451434.1:c.321G>C, XM_017026537.2:c.369G>C, XM_017026537.1:c.369G>C, XM_047438529.1:c.321G>C, XM_047438530.1:c.321G>C, XM_047438531.1:c.321G>C, XM_047438532.1:c.321G>C, NM_025021.1:c.321G>C, XP_005259890.1:p.Glu123Asp, XP_011526144.1:p.Glu123Asp, XP_005259892.1:p.Glu123Asp, XP_005259893.1:p.Glu123Asp, XP_006722773.1:p.Glu123Asp, NP_056136.2:p.Glu107Asp, XP_016882027.1:p.Glu123Asp, NP_001091952.1:p.Glu123Asp, XP_005259891.1:p.Glu107Asp, XP_024307202.1:p.Glu107Asp, XP_016882026.1:p.Glu123Asp, XP_047294485.1:p.Glu107Asp, XP_047294486.1:p.Glu107Asp, XP_047294487.1:p.Glu107Asp, XP_047294488.1:p.Glu107Asp

                                      19.

                                      rs1470536947 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:18775720 (GRCh38)
                                        19:18886530 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:18775719:A:G
                                        Gene:
                                        CRTC1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.18775720A>G, NC_000019.9:g.18886530A>G, XM_005259833.4:c.1553A>G, XM_005259833.3:c.1553A>G, XM_005259833.2:c.1553A>G, XM_005259833.1:c.1553A>G, XM_011527842.4:c.1535A>G, XM_011527842.3:c.1535A>G, XM_011527842.2:c.1535A>G, XM_011527842.1:c.1535A>G, XM_005259835.4:c.1382A>G, XM_005259835.3:c.1382A>G, XM_005259835.2:c.1382A>G, XM_005259835.1:c.1382A>G, XM_005259836.4:c.1277A>G, XM_005259836.3:c.1277A>G, XM_005259836.2:c.1277A>G, XM_005259836.1:c.1277A>G, XM_006722710.4:c.1226A>G, XM_006722710.3:c.1226A>G, XM_006722710.2:c.1226A>G, XM_006722710.1:c.1226A>G, NM_015321.3:c.1592A>G, NM_015321.2:c.1592A>G, NM_001098482.2:c.1640A>G, NM_001098482.1:c.1640A>G, XM_005259834.2:c.1505A>G, XM_005259834.1:c.1505A>G, XM_024451434.2:c.1178A>G, XM_024451434.1:c.1178A>G, XM_047438529.1:c.1487A>G, XM_047438530.1:c.1334A>G, XM_047438531.1:c.1247A>G, XM_047438532.1:c.1229A>G, NM_025021.1:c.1505A>G, XP_005259890.1:p.Gln518Arg, XP_011526144.1:p.Gln512Arg, XP_005259892.1:p.Gln461Arg, XP_005259893.1:p.Gln426Arg, XP_006722773.1:p.Gln409Arg, NP_056136.2:p.Gln531Arg, NP_001091952.1:p.Gln547Arg, XP_005259891.1:p.Gln502Arg, XP_024307202.1:p.Gln393Arg, XP_047294485.1:p.Gln496Arg, XP_047294486.1:p.Gln445Arg, XP_047294487.1:p.Gln416Arg, XP_047294488.1:p.Gln410Arg

                                        20.

                                        rs1468587990 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          19:18768633 (GRCh38)
                                          19:18879443 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:18768632:A:C
                                          Gene:
                                          CRTC1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.015/43 (KOREAN)
                                          HGVS:

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