Linked Data
ClinVar Variation Id:
5639
ClinVar RCV Id:
RCV000005993
dbSNP Id:
rs119490107
ExAC:
8:95411768 C / A
gnomAD v2:
8-95411768-C-A
gnomAD v3:
8-94399540-C-A
gnomAD v4:
8-94399540-C-A
PubMed:
PMID:10362364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.94399540C>A , CM000670.2:g.94399540C>A | GRCh38 |
| NC_000008.10:g.95411768C>A , CM000670.1:g.95411768C>A | GRCh37 |
| NC_000008.9:g.95480944C>A | NCBI36 |
| NG_012878.1:g.80543G>T | |
| NG_012878.2:g.80543G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336148.10:c.1252G>T (RAD54B) MANE Select | ENSP00000336606.5:p.Asp418Tyr | |
| ENST00000336148.9:c.1252G>T (RAD54B) | ENSP00000336606.5:p.Asp418Tyr | |
| ENST00000463267.5:c.*876G>T (RAD54B) | ENSP00000430808.1:n.*876G>T | |
| ENST00000517506.2:c.*932G>T (FSBP) | ENSP00000462684.1:n.*932G>T | |
| ENST00000523192.1:n.44G>T (RAD54B) | ||
| ENST00000611249.1:c.700G>T (RAD54B) | ENSP00000483397.1:p.Asp234Tyr | |
| NM_001205263.1:c.700G>T (RAD54B) | NP_001192192.1:p.Asp234Tyr | |
| NM_012415.3:c.1252G>T (RAD54B) MANE Select | NP_036547.1:p.Asp418Tyr | |
| NM_001205263.2:c.700G>T (RAD54B) | NP_001192192.1:p.Asp234Tyr |