Linked Data
ClinVar Variation Id:
230794
ClinVar RCV Id:
RCV000219420
dbSNP Id:
rs876658778
gnomAD v2:
5-131972819-A-G
gnomAD v4:
5-132637127-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132637127A>G , CM000667.2:g.132637127A>G | GRCh38 |
| NC_000005.9:g.131972819A>G , CM000667.1:g.131972819A>G | GRCh37 |
| NC_000005.8:g.132000718A>G | NCBI36 |
| NG_021151.1:g.85204A>G | |
| NG_021151.2:g.85151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3402A>G (RAD50) MANE Select | ENSP00000368100.4:p.Lys1134= | |
| ENST00000638452.2:c.3105A>G | ENSP00000492349.2:p.Lys1035= | |
| ENST00000638504.1:n.3010A>G | ||
| ENST00000638568.2:c.3105A>G | ENSP00000491158.2:p.Lys1035= | |
| ENST00000639899.1:n.3921A>G | ||
| ENST00000640655.2:c.3105A>G | ENSP00000491596.2:p.Lys1035= | |
| ENST00000651249.1:c.238A>G (RAD50) | ||
| ENST00000378823.7:c.3402A>G (RAD50) | ENSP00000368100.4:p.Lys1134= | |
| ENST00000455677.1:c.37A>G (RAD50) | ||
| ENST00000533482.5:c.*3028A>G (RAD50) | ENSP00000431225.1:n.*3028A>G | |
| NM_005732.3:c.3402A>G (RAD50) | NP_005723.2:p.Lys1134= | |
| NR_132124.1:n.153+1031T>C (TH2LCRR) | ||
| NM_005732.4:c.3402A>G (RAD50) MANE Select | NP_005723.2:p.Lys1134= |