Revel Score:
ENST00000378823 (MANE Select)
0.328
ENST00000265335
0.328
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642206A>G , CM000667.2:g.132642206A>G | GRCh38 |
| NC_000005.9:g.131977898A>G , CM000667.1:g.131977898A>G | GRCh37 |
| NC_000005.8:g.132005797A>G | NCBI36 |
| NG_021151.1:g.90283A>G | |
| NG_021151.2:g.90230A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3781A>G (RAD50) MANE Select | ENSP00000368100.4:p.Asn1261Asp | |
| ENST00000638452.2:c.3484A>G | ENSP00000492349.2:p.Asn1162Asp | |
| ENST00000638504.1:n.3389A>G | ||
| ENST00000638568.2:c.3484A>G | ENSP00000491158.2:p.Asn1162Asp | |
| ENST00000639899.1:n.4300A>G | ||
| ENST00000640655.2:c.3484A>G | ENSP00000491596.2:p.Asn1162Asp | |
| ENST00000651249.1:c.617A>G (RAD50) | ||
| ENST00000378823.7:c.3781A>G (RAD50) | ENSP00000368100.4:p.Asn1261Asp | |
| ENST00000455677.1:c.388-799A>G (RAD50) | ||
| ENST00000533482.5:c.*3407A>G (RAD50) | ENSP00000431225.1:n.*3407A>G | |
| NM_005732.3:c.3781A>G (RAD50) | NP_005723.2:p.Asn1261Asp | |
| NR_132125.1:n.181T>C (TH2LCRR) | ||
| NR_132126.1:n.175-3941T>C (TH2LCRR) | ||
| NM_005732.4:c.3781A>G (RAD50) MANE Select | NP_005723.2:p.Asn1261Asp |