Linked Data
ClinVar Variation Id:
141668
ClinVar RCV Id:
RCV000130277
dbSNP Id:
rs587781925
gnomAD v4:
5-132638224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132638224G>A , CM000667.2:g.132638224G>A | GRCh38 |
| NC_000005.9:g.131973916G>A , CM000667.1:g.131973916G>A | GRCh37 |
| NC_000005.8:g.132001815G>A | NCBI36 |
| NG_021151.1:g.86301G>A | |
| NG_021151.2:g.86248G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3618+1G>A (RAD50) MANE Select | ENSP00000368100.4:n.3618+1G>A | |
| ENST00000638452.2:c.3321+1G>A | ENSP00000492349.2:n.3321+1G>A | |
| ENST00000638504.1:n.3226+1G>A | ||
| ENST00000638568.2:c.3321+1G>A | ENSP00000491158.2:n.3321+1G>A | |
| ENST00000639899.1:n.4137+1G>A | ||
| ENST00000640655.2:c.3321+1G>A | ENSP00000491596.2:n.3321+1G>A | |
| ENST00000651249.1:c.454+1G>A (RAD50) | ||
| ENST00000378823.7:c.3618+1G>A (RAD50) | ENSP00000368100.4:n.3618+1G>A | |
| ENST00000455677.1:c.253+1G>A (RAD50) | ||
| ENST00000533482.5:c.*3244+1G>A (RAD50) | ENSP00000431225.1:n.*3244+1G>A | |
| NM_005732.3:c.3618+1G>A (RAD50) | NP_005723.2:n.3618+1G>A | |
| NR_132124.1:n.87C>T (TH2LCRR) | ||
| NR_132125.1:n.231C>T (TH2LCRR) | ||
| NR_132126.1:n.216C>T (TH2LCRR) | ||
| XR_427771.1:n.468C>T (TH2LCRR) | ||
| NM_005732.4:c.3618+1G>A (RAD50) MANE Select | NP_005723.2:n.3618+1G>A |