Revel Score:
ENST00000378823 (MANE Select)
0.343
ENST00000265335
0.343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642310G>C , CM000667.2:g.132642310G>C | GRCh38 |
| NC_000005.9:g.131978002G>C , CM000667.1:g.131978002G>C | GRCh37 |
| NC_000005.8:g.132005901G>C | NCBI36 |
| NG_021151.1:g.90387G>C | |
| NG_021151.2:g.90334G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3885G>C (RAD50) MANE Select | ENSP00000368100.4:p.Gln1295His | |
| ENST00000638452.2:c.3588G>C | ENSP00000492349.2:p.Gln1196His | |
| ENST00000638504.1:n.3493G>C | ||
| ENST00000638568.2:c.3588G>C | ENSP00000491158.2:p.Gln1196His | |
| ENST00000639899.1:n.4404G>C | ||
| ENST00000640655.2:c.3588G>C | ENSP00000491596.2:p.Gln1196His | |
| ENST00000651249.1:c.721G>C (RAD50) | ||
| ENST00000378823.7:c.3885G>C (RAD50) | ENSP00000368100.4:p.Gln1295His | |
| ENST00000455677.1:c.388-695G>C (RAD50) | ||
| ENST00000533482.5:c.*3511G>C (RAD50) | ENSP00000431225.1:n.*3511G>C | |
| NM_005732.3:c.3885G>C (RAD50) | NP_005723.2:p.Gln1295His | |
| NR_132125.1:n.105-28C>G (TH2LCRR) | ||
| NR_132126.1:n.175-4045C>G (TH2LCRR) | ||
| NM_005732.4:c.3885G>C (RAD50) MANE Select | NP_005723.2:p.Gln1295His |