Linked Data
ClinVar Variation Id:
6192
ClinVar RCV Id:
RCV000006569
dbSNP Id:
rs121908689
gnomAD v4:
1-46272758-T-A
PubMed:
PMID:10362365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46272758T>A , CM000663.2:g.46272758T>A | GRCh38 |
| NC_000001.10:g.46738430T>A , CM000663.1:g.46738430T>A | GRCh37 |
| NC_000001.9:g.46511017T>A | NCBI36 |
| NG_012144.1:g.30064T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371975.9:c.1331T>A (RAD54L) MANE Select | ENSP00000361043.4:p.Val444Glu | |
| ENST00000655446.1:c.*999T>A (RAD54L) | ENSP00000499451.1:n.*999T>A | |
| ENST00000661701.1:c.364T>A (RAD54L) | ||
| ENST00000664182.1:n.394T>A (RAD54L) | ||
| ENST00000671528.1:c.1331T>A (RAD54L) | ENSP00000499652.1:p.Val444Glu | |
| ENST00000371975.8:c.1331T>A (RAD54L) | ENSP00000361043.4:p.Val444Glu | |
| ENST00000442598.5:c.1331T>A (RAD54L) | ENSP00000396113.1:p.Val444Glu | |
| ENST00000459678.2:c.123T>A (RAD54L) | ||
| ENST00000473251.2:c.792T>A (RAD54L) | ||
| ENST00000476687.2:c.361T>A (RAD54L) | ENSP00000479734.1:n.361T>A | |
| ENST00000488942.5:c.162T>A (RAD54L) | ||
| ENST00000496156.5:c.501-5081A>T (LRRC41) | ENSP00000477909.1:n.501-5081A>T | |
| NM_001142548.1:c.1331T>A (RAD54L) | NP_001136020.1:p.Val444Glu | |
| NM_003579.3:c.1331T>A (RAD54L) | NP_003570.2:p.Val444Glu | |
| XM_006710975.2:c.791T>A (RAD54L) | XP_006711038.1:p.Val264Glu | |
| XM_011542299.1:c.557T>A (RAD54L) | XP_011540601.1:p.Val186Glu | |
| XM_011542300.1:c.557T>A (RAD54L) | XP_011540602.1:p.Val186Glu | |
| XM_006710975.3:c.791T>A (RAD54L) | XP_006711038.1:p.Val264Glu | |
| XM_011542299.2:c.557T>A (RAD54L) | XP_011540601.1:p.Val186Glu | |
| XM_011542300.3:c.557T>A (RAD54L) | XP_011540602.1:p.Val186Glu | |
| NM_003579.4:c.1331T>A (RAD54L) MANE Select | NP_003570.2:p.Val444Glu | |
| NM_001370766.1:c.791T>A (RAD54L) | NP_001357695.1:p.Val264Glu | |
| NM_001142548.2:c.1331T>A (RAD54L) | NP_001136020.1:p.Val444Glu |