Linked Data
ClinVar Variation Id:
219611
ClinVar RCV Id:
RCV000204902
dbSNP Id:
rs763958218
ExAC:
5:131977873 A / C
gnomAD v2:
5-131977873-A-C
gnomAD v4:
5-132642181-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642181A>C , CM000667.2:g.132642181A>C | GRCh38 |
| NC_000005.9:g.131977873A>C , CM000667.1:g.131977873A>C | GRCh37 |
| NC_000005.8:g.132005772A>C | NCBI36 |
| NG_021151.1:g.90258A>C | |
| NG_021151.2:g.90205A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3756A>C (RAD50) MANE Select | ENSP00000368100.4:p.Ile1252= | |
| ENST00000638452.2:c.3459A>C | ENSP00000492349.2:p.Ile1153= | |
| ENST00000638504.1:n.3364A>C | ||
| ENST00000638568.2:c.3459A>C | ENSP00000491158.2:p.Ile1153= | |
| ENST00000639899.1:n.4275A>C | ||
| ENST00000640655.2:c.3459A>C | ENSP00000491596.2:p.Ile1153= | |
| ENST00000651249.1:c.592A>C (RAD50) | ||
| ENST00000378823.7:c.3756A>C (RAD50) | ENSP00000368100.4:p.Ile1252= | |
| ENST00000455677.1:c.388-824A>C (RAD50) | ||
| ENST00000533482.5:c.*3382A>C (RAD50) | ENSP00000431225.1:n.*3382A>C | |
| NM_005732.3:c.3756A>C (RAD50) | NP_005723.2:p.Ile1252= | |
| NR_132125.1:n.189+17T>G (TH2LCRR) | ||
| NR_132126.1:n.175-3916T>G (TH2LCRR) | ||
| NM_005732.4:c.3756A>C (RAD50) MANE Select | NP_005723.2:p.Ile1252= |