Linked Data
ClinVar Variation Id:
1248377
ClinVar RCV Id:
RCV001652211
dbSNP Id:
rs2240032
gnomAD v2:
5-131977127-C-T
gnomAD v3:
5-132641435-C-T
gnomAD v4:
5-132641435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132641435C>T , CM000667.2:g.132641435C>T | GRCh38 |
| NC_000005.9:g.131977127C>T , CM000667.1:g.131977127C>T | GRCh37 |
| NC_000005.8:g.132005026C>T | NCBI36 |
| NG_021151.1:g.89512C>T | |
| NG_021151.2:g.89459C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3752+630C>T (RAD50) MANE Select | ENSP00000368100.4:n.3752+630C>T | |
| ENST00000638452.2:c.3455+630C>T | ENSP00000492349.2:n.3455+630C>T | |
| ENST00000638504.1:n.3360+630C>T | ||
| ENST00000638568.2:c.3455+630C>T | ENSP00000491158.2:n.3455+630C>T | |
| ENST00000639899.1:n.4271+630C>T | ||
| ENST00000640655.2:c.3455+630C>T | ENSP00000491596.2:n.3455+630C>T | |
| ENST00000651249.1:c.588+630C>T (RAD50) | ||
| ENST00000378823.7:c.3752+630C>T (RAD50) | ENSP00000368100.4:n.3752+630C>T | |
| ENST00000455677.1:c.387+630C>T (RAD50) | ||
| ENST00000533482.5:c.*3378+630C>T (RAD50) | ENSP00000431225.1:n.*3378+630C>T | |
| NM_005732.3:c.3752+630C>T (RAD50) | NP_005723.2:n.3752+630C>T | |
| NR_132124.1:n.45+311G>A (TH2LCRR) | ||
| NR_132125.1:n.189+763G>A (TH2LCRR) | ||
| NR_132126.1:n.175-3170G>A (TH2LCRR) | ||
| XR_427771.1:n.426+311G>A (TH2LCRR) | ||
| NM_005732.4:c.3752+630C>T (RAD50) MANE Select | NP_005723.2:n.3752+630C>T |