COSMIC:
COSM5618658 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36176516 (SAS)
Genomes Max Group AF
0.35727076 (SAS)
Exomes Max Group AF
0.36130987 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46278228C>T , CM000663.2:g.46278228C>T | GRCh38 |
| NC_000001.10:g.46743900C>T , CM000663.1:g.46743900C>T | GRCh37 |
| NC_000001.9:g.46516487C>T | NCBI36 |
| NG_012144.1:g.35534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371975.9:c.2190C>T (RAD54L) MANE Select | ENSP00000361043.4:p.Ala730= | |
| ENST00000617190.5:c.*637G>A (LRRC41) MANE Select | ENSP00000477792.1:n.*637G>A | |
| ENST00000655446.1:c.*1858C>T (RAD54L) | ENSP00000499451.1:n.*1858C>T | |
| ENST00000661701.1:c.1223C>T (RAD54L) | ||
| ENST00000671528.1:c.2190C>T (RAD54L) | ENSP00000499652.1:p.Ala730= | |
| ENST00000371975.8:c.2190C>T (RAD54L) | ENSP00000361043.4:p.Ala730= | |
| ENST00000442598.5:c.2190C>T (RAD54L) | ENSP00000396113.1:p.Ala730= | |
| ENST00000488942.5:c.910C>T (RAD54L) | ||
| ENST00000496156.5:c.500+954G>A (LRRC41) | ENSP00000477909.1:n.500+954G>A | |
| ENST00000617190.4:c.*637G>A (LRRC41) | ENSP00000477792.1:n.*637G>A | |
| NM_001142548.1:c.2190C>T (RAD54L) | NP_001136020.1:p.Ala730= | |
| NM_003579.3:c.2190C>T (RAD54L) | NP_003570.2:p.Ala730= | |
| XM_006710975.2:c.1650C>T (RAD54L) | XP_006711038.1:p.Ala550= | |
| XM_011542299.1:c.1416C>T (RAD54L) | XP_011540601.1:p.Ala472= | |
| XM_011542300.1:c.1416C>T (RAD54L) | XP_011540602.1:p.Ala472= | |
| XM_006710975.3:c.1650C>T (RAD54L) | XP_006711038.1:p.Ala550= | |
| XM_011542299.2:c.1416C>T (RAD54L) | XP_011540601.1:p.Ala472= | |
| XM_011542300.3:c.1416C>T (RAD54L) | XP_011540602.1:p.Ala472= | |
| NM_003579.4:c.2190C>T (RAD54L) MANE Select | NP_003570.2:p.Ala730= | |
| NM_001370766.1:c.1650C>T (RAD54L) | NP_001357695.1:p.Ala550= | |
| NM_001142548.2:c.2190C>T (RAD54L) | NP_001136020.1:p.Ala730= | |
| NM_006369.5:c.*637G>A (LRRC41) MANE Select | NP_006360.3:n.*637G>A |