Revel Score:
ENST00000378823 (MANE Select)
0.346
ENST00000265335
0.346
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00193542 (EAS)
Genomes Max Group AF
0.00193459 (EAS)
Exomes Max Group AF
0.00181932 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642215C>T , CM000667.2:g.132642215C>T | GRCh38 |
| NC_000005.9:g.131977907C>T , CM000667.1:g.131977907C>T | GRCh37 |
| NC_000005.8:g.132005806C>T | NCBI36 |
| NG_021151.1:g.90292C>T | |
| NG_021151.2:g.90239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3790C>T (RAD50) MANE Select | ENSP00000368100.4:p.Leu1264Phe | |
| ENST00000638452.2:c.3493C>T | ENSP00000492349.2:p.Leu1165Phe | |
| ENST00000638504.1:n.3398C>T | ||
| ENST00000638568.2:c.3493C>T | ENSP00000491158.2:p.Leu1165Phe | |
| ENST00000639899.1:n.4309C>T | ||
| ENST00000640655.2:c.3493C>T | ENSP00000491596.2:p.Leu1165Phe | |
| ENST00000651249.1:c.626C>T (RAD50) | ||
| ENST00000378823.7:c.3790C>T (RAD50) | ENSP00000368100.4:p.Leu1264Phe | |
| ENST00000455677.1:c.388-790C>T (RAD50) | ||
| ENST00000533482.5:c.*3416C>T (RAD50) | ENSP00000431225.1:n.*3416C>T | |
| NM_005732.3:c.3790C>T (RAD50) | NP_005723.2:p.Leu1264Phe | |
| NR_132125.1:n.172G>A (TH2LCRR) | ||
| NR_132126.1:n.175-3950G>A (TH2LCRR) | ||
| NM_005732.4:c.3790C>T (RAD50) MANE Select | NP_005723.2:p.Leu1264Phe |