Linked Data
ClinVar Variation Id:
527356
ClinVar RCV Id:
RCV000632215
dbSNP Id:
rs1554100868
gnomAD v4:
5-132637189-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132637189A>G , CM000667.2:g.132637189A>G | GRCh38 |
| NC_000005.9:g.131972881A>G , CM000667.1:g.131972881A>G | GRCh37 |
| NC_000005.8:g.132000780A>G | NCBI36 |
| NG_021151.1:g.85266A>G | |
| NG_021151.2:g.85213A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3464A>G (RAD50) MANE Select | ENSP00000368100.4:p.Tyr1155Cys | |
| ENST00000638452.2:c.3167A>G | ENSP00000492349.2:p.Tyr1056Cys | |
| ENST00000638504.1:n.3072A>G | ||
| ENST00000638568.2:c.3167A>G | ENSP00000491158.2:p.Tyr1056Cys | |
| ENST00000639899.1:n.3983A>G | ||
| ENST00000640655.2:c.3167A>G | ENSP00000491596.2:p.Tyr1056Cys | |
| ENST00000651249.1:c.300A>G (RAD50) | ||
| ENST00000378823.7:c.3464A>G (RAD50) | ENSP00000368100.4:p.Tyr1155Cys | |
| ENST00000455677.1:c.99A>G (RAD50) | ||
| ENST00000533482.5:c.*3090A>G (RAD50) | ENSP00000431225.1:n.*3090A>G | |
| NM_005732.3:c.3464A>G (RAD50) | NP_005723.2:p.Tyr1155Cys | |
| NR_132124.1:n.153+969T>C (TH2LCRR) | ||
| NM_005732.4:c.3464A>G (RAD50) MANE Select | NP_005723.2:p.Tyr1155Cys |