Linked Data
ClinVar Variation Id:
5873
dbSNP Id:
rs121912629
gnomAD v3:
5-132642364-A-T
gnomAD v4:
5-132642364-A-T
PubMed:
PMID:19409520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642364A>T , CM000667.2:g.132642364A>T | GRCh38 |
| NC_000005.9:g.131978056A>T , CM000667.1:g.131978056A>T | GRCh37 |
| NC_000005.8:g.132005955A>T | NCBI36 |
| NG_021151.1:g.90441A>T | |
| NG_021151.2:g.90388A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3939A>T (RAD50) MANE Select | ENSP00000368100.4:p.Ter1313Tyr | |
| ENST00000638452.2:c.3642A>T | ENSP00000492349.2:p.Ter1214Tyr | |
| ENST00000638504.1:n.3547A>T | ||
| ENST00000638568.2:c.3642A>T | ENSP00000491158.2:p.Ter1214Tyr | |
| ENST00000639899.1:n.4458A>T | ||
| ENST00000640655.2:c.3642A>T | ENSP00000491596.2:p.Ter1214Tyr | |
| ENST00000651249.1:c.775A>T (RAD50) | ||
| ENST00000378823.7:c.3939A>T (RAD50) | ENSP00000368100.4:p.Ter1313Tyr | |
| ENST00000455677.1:c.388-641A>T (RAD50) | ||
| ENST00000533482.5:c.*3565A>T (RAD50) | ENSP00000431225.1:n.*3565A>T | |
| NM_005732.3:c.3939A>T (RAD50) | NP_005723.2:p.Ter1313Tyr | |
| NR_132125.1:n.105-82T>A (TH2LCRR) | ||
| NR_132126.1:n.175-4099T>A (TH2LCRR) | ||
| NM_005732.4:c.3939A>T (RAD50) MANE Select | NP_005723.2:p.Ter1313Tyr |