Linked Data
ClinVar Variation Id:
473193
ClinVar RCV Id:
RCV000551762
dbSNP Id:
rs761965871
ExAC:
8:117859787 C / T
gnomAD v2:
8-117859787-C-T
gnomAD v3:
8-116847548-C-T
gnomAD v4:
8-116847548-C-T
COSMIC:
COSM1095322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116847548C>T , CM000670.2:g.116847548C>T | GRCh38 |
| NC_000008.10:g.117859787C>T , CM000670.1:g.117859787C>T | GRCh37 |
| NC_000008.9:g.117928968C>T | NCBI36 |
| NG_032862.1:g.32319G>A , LRG_772:g.32319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517485.6:c.1848G>A (RAD21) | ENSP00000427923.2:p.Pro616= | |
| ENST00000517749.2:c.1848G>A (RAD21) | ENSP00000430273.2:p.Pro616= | |
| ENST00000519837.6:c.1848G>A (RAD21) | ENSP00000430524.2:p.Pro616= | |
| ENST00000520992.6:c.1848G>A (RAD21) | ENSP00000429342.2:p.Pro616= | |
| ENST00000522699.2:c.1848G>A (RAD21) | ENSP00000428158.2:p.Pro616= | |
| ENST00000523986.6:n.4817G>A (RAD21) | ||
| ENST00000685972.1:n.5151G>A (RAD21) | ||
| ENST00000687122.1:n.4676G>A (RAD21) | ||
| ENST00000687358.1:c.1848G>A (RAD21) | ENSP00000509687.1:p.Pro616= | |
| ENST00000687902.1:c.*223G>A (RAD21) | ENSP00000510729.1:n.*223G>A | |
| ENST00000689124.1:n.2062G>A (RAD21) | ||
| ENST00000689154.1:n.1740G>A (RAD21) | ||
| ENST00000690166.1:n.6717G>A (RAD21) | ||
| ENST00000297338.7:c.1848G>A (RAD21) MANE Select | ENSP00000297338.2:p.Pro616= | |
| ENST00000297338.6:c.1848G>A (RAD21) | ENSP00000297338.2:p.Pro616= | |
| ENST00000517749.1:c.162G>A (RAD21) | ENSP00000430273.1:p.Pro54= | |
| ENST00000517820.1:c.189-1340C>T (UTP23) | ENSP00000427767.1:n.189-1340C>T | |
| ENST00000518055.1:c.483G>A (RAD21) | ENSP00000428003.1:p.Pro161= | |
| ENST00000520733.5:c.46-1340C>T (UTP23) | ENSP00000429384.1:n.46-1340C>T | |
| ENST00000521703.5:c.*93-1340C>T (UTP23) | ENSP00000428455.1:n.*93-1340C>T | |
| ENST00000523986.5:c.360G>A (RAD21) | ENSP00000428513.1:p.Pro120= | |
| ENST00000524128.1:c.*93-1340C>T (UTP23) | ENSP00000430309.1:n.*93-1340C>T | |
| NM_006265.2:c.1848G>A , LRG_772t1:c.1848G>A (RAD21) | NP_006256.1:p.Pro616= | |
| XR_928356.1:n.663-1340C>T (UTP23) | ||
| NM_006265.3:c.1848G>A (RAD21) MANE Select | NP_006256.1:p.Pro616= |