Linked Data
ClinVar Variation Id:
142598
dbSNP Id:
rs587782577
ExAC:
5:131973793 C / T
gnomAD v2:
5-131973793-C-T
gnomAD v3:
5-132638101-C-T
gnomAD v4:
5-132638101-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132638101C>T , CM000667.2:g.132638101C>T | GRCh38 |
| NC_000005.9:g.131973793C>T , CM000667.1:g.131973793C>T | GRCh37 |
| NC_000005.8:g.132001692C>T | NCBI36 |
| NG_021151.1:g.86178C>T | |
| NG_021151.2:g.86125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3496C>T (RAD50) MANE Select | ENSP00000368100.4:p.Arg1166Trp | |
| ENST00000638452.2:c.3199C>T | ENSP00000492349.2:p.Arg1067Trp | |
| ENST00000638504.1:n.3104C>T | ||
| ENST00000638568.2:c.3199C>T | ENSP00000491158.2:p.Arg1067Trp | |
| ENST00000639899.1:n.4015C>T | ||
| ENST00000640655.2:c.3199C>T | ENSP00000491596.2:p.Arg1067Trp | |
| ENST00000651249.1:c.332C>T (RAD50) | ||
| ENST00000378823.7:c.3496C>T (RAD50) | ENSP00000368100.4:p.Arg1166Trp | |
| ENST00000455677.1:c.131C>T (RAD50) | ||
| ENST00000533482.5:c.*3122C>T (RAD50) | ENSP00000431225.1:n.*3122C>T | |
| NM_005732.3:c.3496C>T (RAD50) | NP_005723.2:p.Arg1166Trp | |
| NR_132124.1:n.153+57G>A (TH2LCRR) | ||
| NR_132125.1:n.354G>A (TH2LCRR) | ||
| NR_132126.1:n.339G>A (TH2LCRR) | ||
| NM_005732.4:c.3496C>T (RAD50) MANE Select | NP_005723.2:p.Arg1166Trp |