Linked Data
ClinVar Variation Id:
1282436
ClinVar RCV Id:
RCV001695828
dbSNP Id:
rs2040704
gnomAD v2:
5-131973177-A-G
gnomAD v3:
5-132637485-A-G
gnomAD v4:
5-132637485-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132637485A>G , CM000667.2:g.132637485A>G | GRCh38 |
| NC_000005.9:g.131973177A>G , CM000667.1:g.131973177A>G | GRCh37 |
| NC_000005.8:g.132001076A>G | NCBI36 |
| NG_021151.1:g.85562A>G | |
| NG_021151.2:g.85509A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3475+285A>G (RAD50) MANE Select | ENSP00000368100.4:n.3475+285A>G | |
| ENST00000638452.2:c.3178+285A>G | ENSP00000492349.2:n.3178+285A>G | |
| ENST00000638504.1:n.3083+285A>G | ||
| ENST00000638568.2:c.3178+285A>G | ENSP00000491158.2:n.3178+285A>G | |
| ENST00000639899.1:n.3994+285A>G | ||
| ENST00000640655.2:c.3178+285A>G | ENSP00000491596.2:n.3178+285A>G | |
| ENST00000651249.1:c.311+285A>G (RAD50) | ||
| ENST00000378823.7:c.3475+285A>G (RAD50) | ENSP00000368100.4:n.3475+285A>G | |
| ENST00000455677.1:c.110+285A>G (RAD50) | ||
| ENST00000533482.5:c.*3101+285A>G (RAD50) | ENSP00000431225.1:n.*3101+285A>G | |
| NM_005732.3:c.3475+285A>G (RAD50) | NP_005723.2:n.3475+285A>G | |
| NR_132124.1:n.153+673T>C (TH2LCRR) | ||
| NM_005732.4:c.3475+285A>G (RAD50) MANE Select | NP_005723.2:n.3475+285A>G |