Linked Data
ClinVar Variation Id:
5638
dbSNP Id:
rs114216685
ExAC:
8:95403868 T / C
gnomAD v2:
8-95403868-T-C
gnomAD v3:
8-94391640-T-C
gnomAD v4:
8-94391640-T-C
PubMed:
PMID:10362364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.94391640T>C , CM000670.2:g.94391640T>C | GRCh38 |
| NC_000008.10:g.95403868T>C , CM000670.1:g.95403868T>C | GRCh37 |
| NC_000008.9:g.95473044T>C | NCBI36 |
| NG_012878.1:g.88443A>G | |
| NG_012878.2:g.88443A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336148.10:c.1778A>G (RAD54B) MANE Select | ENSP00000336606.5:p.Asn593Ser | |
| ENST00000336148.9:c.1778A>G (RAD54B) | ENSP00000336606.5:p.Asn593Ser | |
| ENST00000517506.2:c.*1458A>G (FSBP) | ENSP00000462684.1:n.*1458A>G | |
| ENST00000611249.1:c.1226A>G (RAD54B) | ENSP00000483397.1:p.Asn409Ser | |
| NM_001205263.1:c.1226A>G (RAD54B) | NP_001192192.1:p.Asn409Ser | |
| NM_012415.3:c.1778A>G (RAD54B) MANE Select | NP_036547.1:p.Asn593Ser | |
| NM_001205263.2:c.1226A>G (RAD54B) | NP_001192192.1:p.Asn409Ser |