Revel Score:
ENST00000378823 (MANE Select)
0.579
ENST00000265335
0.579
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642209T>G , CM000667.2:g.132642209T>G | GRCh38 |
| NC_000005.9:g.131977901T>G , CM000667.1:g.131977901T>G | GRCh37 |
| NC_000005.8:g.132005800T>G | NCBI36 |
| NG_021151.1:g.90286T>G | |
| NG_021151.2:g.90233T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3784T>G (RAD50) MANE Select | ENSP00000368100.4:p.Phe1262Val | |
| ENST00000638452.2:c.3487T>G | ENSP00000492349.2:p.Phe1163Val | |
| ENST00000638504.1:n.3392T>G | ||
| ENST00000638568.2:c.3487T>G | ENSP00000491158.2:p.Phe1163Val | |
| ENST00000639899.1:n.4303T>G | ||
| ENST00000640655.2:c.3487T>G | ENSP00000491596.2:p.Phe1163Val | |
| ENST00000651249.1:c.620T>G (RAD50) | ||
| ENST00000378823.7:c.3784T>G (RAD50) | ENSP00000368100.4:p.Phe1262Val | |
| ENST00000455677.1:c.388-796T>G (RAD50) | ||
| ENST00000533482.5:c.*3410T>G (RAD50) | ENSP00000431225.1:n.*3410T>G | |
| NM_005732.3:c.3784T>G (RAD50) | NP_005723.2:p.Phe1262Val | |
| NR_132125.1:n.178A>C (TH2LCRR) | ||
| NR_132126.1:n.175-3944A>C (TH2LCRR) | ||
| NM_005732.4:c.3784T>G (RAD50) MANE Select | NP_005723.2:p.Phe1262Val |