Revel Score:
ENST00000336148 (MANE Select)
0.113
ENST00000523839
0.113
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013411 (MID)
Exomes Max Group AF
0.00014176 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.94411264G>T , CM000670.2:g.94411264G>T | GRCh38 |
| NC_000008.10:g.95423492G>T , CM000670.1:g.95423492G>T | GRCh37 |
| NC_000008.9:g.95492668G>T | NCBI36 |
| NG_012878.1:g.68819C>A | |
| NG_012878.2:g.68819C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336148.10:c.356C>A (RAD54B) MANE Select | ENSP00000336606.5:p.Ser119Tyr | |
| ENST00000336148.9:c.356C>A (RAD54B) | ENSP00000336606.5:p.Ser119Tyr | |
| ENST00000463267.5:c.*36C>A (RAD54B) | ENSP00000430808.1:n.*36C>A | |
| ENST00000517506.2:c.*36C>A (FSBP) | ENSP00000462684.1:n.*36C>A | |
| ENST00000518998.5:c.*28C>A (RAD54B) | ENSP00000430570.1:n.*28C>A | |
| ENST00000523839.5:c.356C>A (RAD54B) | ENSP00000428554.1:p.Ser119Tyr | |
| ENST00000611249.1:c.-197C>A (RAD54B) | ENSP00000483397.1:n.-197C>A | |
| NM_001205263.1:c.-197C>A (RAD54B) | NP_001192192.1:n.-197C>A | |
| NM_012415.3:c.356C>A (RAD54B) MANE Select | NP_036547.1:p.Ser119Tyr | |
| NM_001205263.2:c.-197C>A (RAD54B) | NP_001192192.1:n.-197C>A |