Linked Data
ClinVar Variation Id:
408424
ClinVar RCV Id:
RCV000457507
dbSNP Id:
rs747603489
ExAC:
5:131973851 G / A
gnomAD v2:
5-131973851-G-A
gnomAD v3:
5-132638159-G-A
gnomAD v4:
5-132638159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132638159G>A , CM000667.2:g.132638159G>A | GRCh38 |
| NC_000005.9:g.131973851G>A , CM000667.1:g.131973851G>A | GRCh37 |
| NC_000005.8:g.132001750G>A | NCBI36 |
| NG_021151.1:g.86236G>A | |
| NG_021151.2:g.86183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3554G>A (RAD50) MANE Select | ENSP00000368100.4:p.Arg1185Gln | |
| ENST00000638452.2:c.3257G>A | ENSP00000492349.2:p.Arg1086Gln | |
| ENST00000638504.1:n.3162G>A | ||
| ENST00000638568.2:c.3257G>A | ENSP00000491158.2:p.Arg1086Gln | |
| ENST00000639899.1:n.4073G>A | ||
| ENST00000640655.2:c.3257G>A | ENSP00000491596.2:p.Arg1086Gln | |
| ENST00000651249.1:c.390G>A (RAD50) | ||
| ENST00000378823.7:c.3554G>A (RAD50) | ENSP00000368100.4:p.Arg1185Gln | |
| ENST00000455677.1:c.189G>A (RAD50) | ||
| ENST00000533482.5:c.*3180G>A (RAD50) | ENSP00000431225.1:n.*3180G>A | |
| NM_005732.3:c.3554G>A (RAD50) | NP_005723.2:p.Arg1185Gln | |
| NR_132124.1:n.152C>T (TH2LCRR) | ||
| NR_132125.1:n.296C>T (TH2LCRR) | ||
| NR_132126.1:n.281C>T (TH2LCRR) | ||
| XR_427771.1:n.533C>T (TH2LCRR) | ||
| NM_005732.4:c.3554G>A (RAD50) MANE Select | NP_005723.2:p.Arg1185Gln |