COSMIC:
COSM3763309 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62606841 (MID)
Genomes Max Group AF
0.61619875 (SAS)
Exomes Max Group AF
0.6287332 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28527195A>G , CM000670.2:g.28527195A>G | GRCh38 |
| NC_000008.10:g.28384712A>G , CM000670.1:g.28384712A>G | GRCh37 |
| NC_000008.9:g.28440631A>G | NCBI36 |
| NG_029723.1:g.37991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240093.8:c.435A>G MANE Select | ENSP00000240093.3:p.Leu145= | |
| ENST00000240093.7:c.435A>G | ENSP00000240093.3:p.Leu145= | |
| ENST00000537916.2:c.435A>G | ENSP00000437489.1:p.Leu145= | |
| NM_017412.3:c.435A>G | NP_059108.1:p.Leu145= | |
| NM_145866.1:c.435A>G | NP_665873.1:p.Leu145= | |
| XM_011544646.1:c.318A>G | XP_011542948.1:p.Leu106= | |
| XM_011544647.1:c.234A>G | XP_011542949.1:p.Leu78= | |
| XM_011544648.1:c.435A>G | XP_011542950.1:p.Leu145= | |
| XM_011544649.1:c.234A>G | XP_011542951.1:p.Leu78= | |
| XR_949476.1:n.954A>G | ||
| XR_949477.1:n.954A>G | ||
| XR_949478.1:n.954A>G | ||
| XM_017013841.1:c.234A>G | XP_016869330.1:p.Leu78= | |
| XM_017013842.1:c.435A>G | XP_016869331.1:p.Leu145= | |
| XM_017013843.1:c.435A>G | XP_016869332.1:p.Leu145= | |
| XM_017013844.1:c.435A>G | XP_016869333.1:p.Leu145= | |
| XR_001745597.2:n.911A>G | ||
| XR_949476.2:n.954A>G | ||
| NM_017412.4:c.435A>G MANE Select | NP_059108.1:p.Leu145= | |
| NM_145866.2:c.435A>G | NP_665873.1:p.Leu145= |