Linked Data
ClinVar Variation Id:
233174
ClinVar RCV Id:
RCV002257524
dbSNP Id:
rs745797941
ExAC:
5:131972871 C / T
gnomAD v2:
5-131972871-C-T
gnomAD v3:
5-132637179-C-T
gnomAD v4:
5-132637179-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132637179C>T , CM000667.2:g.132637179C>T | GRCh38 |
| NC_000005.9:g.131972871C>T , CM000667.1:g.131972871C>T | GRCh37 |
| NC_000005.8:g.132000770C>T | NCBI36 |
| NG_021151.1:g.85256C>T | |
| NG_021151.2:g.85203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3454C>T (RAD50) MANE Select | ENSP00000368100.4:p.Arg1152Ter | |
| ENST00000638452.2:c.3157C>T | ENSP00000492349.2:p.Arg1053Ter | |
| ENST00000638504.1:n.3062C>T | ||
| ENST00000638568.2:c.3157C>T | ENSP00000491158.2:p.Arg1053Ter | |
| ENST00000639899.1:n.3973C>T | ||
| ENST00000640655.2:c.3157C>T | ENSP00000491596.2:p.Arg1053Ter | |
| ENST00000651249.1:c.290C>T (RAD50) | ||
| ENST00000378823.7:c.3454C>T (RAD50) | ENSP00000368100.4:p.Arg1152Ter | |
| ENST00000455677.1:c.89C>T (RAD50) | ||
| ENST00000533482.5:c.*3080C>T (RAD50) | ENSP00000431225.1:n.*3080C>T | |
| NM_005732.3:c.3454C>T (RAD50) | NP_005723.2:p.Arg1152Ter | |
| NR_132124.1:n.153+979G>A (TH2LCRR) | ||
| NM_005732.4:c.3454C>T (RAD50) MANE Select | NP_005723.2:p.Arg1152Ter |