COSMIC:
COSM146447 (not active)
COSM3751042 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75484538 (AFR)
Genomes Max Group AF
0.74862791 (AFR)
Exomes Max Group AF
0.75771224 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23875429T>C , CM000663.2:g.23875429T>C | GRCh38 |
| NC_000001.10:g.24201919T>C , CM000663.1:g.24201919T>C | GRCh37 |
| NC_000001.9:g.24074506T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374472.5:c.189A>G MANE Select | ENSP00000363596.4:p.Gln63= | |
| ENST00000374472.4:c.189A>G | ENSP00000363596.4:p.Gln63= | |
| NM_001841.2:c.189A>G | NP_001832.1:p.Gln63= | |
| XM_005245736.3:c.189A>G | XP_005245793.1:p.Gln63= | |
| XM_011540627.1:c.189A>G | XP_011538929.1:p.Gln63= | |
| XM_011540628.1:c.189A>G | XP_011538930.1:p.Gln63= | |
| XM_011540629.1:c.189A>G | XP_011538931.1:p.Gln63= | |
| XM_011540629.3:c.189A>G | XP_011538931.1:p.Gln63= | |
| XM_017000261.2:c.189A>G | XP_016855750.1:p.Gln63= | |
| NM_001841.3:c.189A>G MANE Select | NP_001832.1:p.Gln63= |