COSMIC:
COSM1131106 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80374902 (SAS)
Genomes Max Group AF
0.79170162 (SAS)
Exomes Max Group AF
0.80337421 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55443825A>G , CM000666.2:g.55443825A>G | GRCh38 |
| NC_000004.11:g.56309992A>G , CM000666.1:g.56309992A>G | GRCh37 |
| NC_000004.10:g.56004749A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513440.6:c.1764T>C (CLOCK) MANE Select | ENSP00000426983.1:p.Asn588= | |
| ENST00000309964.8:c.1764T>C (CLOCK) | ENSP00000308741.4:p.Asn588= | |
| ENST00000381322.5:c.1764T>C (CLOCK) | ENSP00000370723.1:p.Asn588= | |
| ENST00000506103.2:c.353-8414A>G (TMEM165) | ||
| ENST00000511124.1:n.346T>C (CLOCK) | ||
| ENST00000513440.5:c.1764T>C (CLOCK) | ENSP00000426983.1:p.Asn588= | |
| ENST00000608091.1:c.409-8414A>G (TMEM165) | ||
| NM_001267843.1:c.1764T>C (CLOCK) | NP_001254772.1:p.Asn588= | |
| NM_004898.3:c.1764T>C (CLOCK) | NP_004889.1:p.Asn588= | |
| XM_005265787.1:c.1764T>C (CLOCK) | XP_005265844.1:p.Asn588= | |
| XM_006714054.2:c.1764T>C (CLOCK) | XP_006714117.1:p.Asn588= | |
| XM_011534394.1:c.899-8414A>G (TMEM165) | XP_011532696.1:n.899-8414A>G | |
| XM_011534409.1:c.1764T>C (CLOCK) | XP_011532711.1:p.Asn588= | |
| XM_011534410.1:c.1764T>C (CLOCK) | XP_011532712.1:p.Asn588= | |
| XM_011534411.1:c.1764T>C (CLOCK) | XP_011532713.1:p.Asn588= | |
| XM_005265787.2:c.1764T>C (CLOCK) | XP_005265844.1:p.Asn588= | |
| XM_011534394.3:c.899-8414A>G (TMEM165) | XP_011532696.1:n.899-8414A>G | |
| XM_011534409.2:c.1764T>C (CLOCK) | XP_011532711.1:p.Asn588= | |
| XM_011534410.2:c.1764T>C (CLOCK) | XP_011532712.1:p.Asn588= | |
| XM_011534411.2:c.1764T>C (CLOCK) | XP_011532713.1:p.Asn588= | |
| XM_017008854.1:c.1764T>C (CLOCK) | XP_016864343.1:p.Asn588= | |
| XM_017008855.1:c.1587T>C (CLOCK) | XP_016864344.1:p.Asn529= | |
| XM_024454284.1:c.1764T>C (CLOCK) | XP_024310052.1:p.Asn588= | |
| NM_004898.4:c.1764T>C (CLOCK) MANE Select | NP_004889.1:p.Asn588= | |
| NM_001267843.2:c.1764T>C (CLOCK) | NP_001254772.1:p.Asn588= |