Revel Score:
ENST00000378823 (MANE Select)
0.250
ENST00000265335
0.250
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032406 (MID)
Genomes Max Group AF
0.00000797 (AFR)
Exomes Max Group AF
0.0003412 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642204G>A , CM000667.2:g.132642204G>A | GRCh38 |
| NC_000005.9:g.131977896G>A , CM000667.1:g.131977896G>A | GRCh37 |
| NC_000005.8:g.132005795G>A | NCBI36 |
| NG_021151.1:g.90281G>A | |
| NG_021151.2:g.90228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3779G>A (RAD50) MANE Select | ENSP00000368100.4:p.Arg1260His | |
| ENST00000638452.2:c.3482G>A | ENSP00000492349.2:p.Arg1161His | |
| ENST00000638504.1:n.3387G>A | ||
| ENST00000638568.2:c.3482G>A | ENSP00000491158.2:p.Arg1161His | |
| ENST00000639899.1:n.4298G>A | ||
| ENST00000640655.2:c.3482G>A | ENSP00000491596.2:p.Arg1161His | |
| ENST00000651249.1:c.615G>A (RAD50) | ||
| ENST00000378823.7:c.3779G>A (RAD50) | ENSP00000368100.4:p.Arg1260His | |
| ENST00000455677.1:c.388-801G>A (RAD50) | ||
| ENST00000533482.5:c.*3405G>A (RAD50) | ENSP00000431225.1:n.*3405G>A | |
| NM_005732.3:c.3779G>A (RAD50) | NP_005723.2:p.Arg1260His | |
| NR_132125.1:n.183C>T (TH2LCRR) | ||
| NR_132126.1:n.175-3939C>T (TH2LCRR) | ||
| NM_005732.4:c.3779G>A (RAD50) MANE Select | NP_005723.2:p.Arg1260His |