Linked Data
ClinVar Variation Id:
2696741
ClinVar RCV Id:
RCV003533930
dbSNP Id:
rs763059424
ExAC:
8:117859772 G / A
gnomAD v2:
8-117859772-G-A
gnomAD v3:
8-116847533-G-A
gnomAD v4:
8-116847533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116847533G>A , CM000670.2:g.116847533G>A | GRCh38 |
| NC_000008.10:g.117859772G>A , CM000670.1:g.117859772G>A | GRCh37 |
| NC_000008.9:g.117928953G>A | NCBI36 |
| NG_032862.1:g.32334C>T , LRG_772:g.32334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517485.6:c.1863C>T (RAD21) | ENSP00000427923.2:p.Ile621= | |
| ENST00000517749.2:c.1863C>T (RAD21) | ENSP00000430273.2:p.Ile621= | |
| ENST00000519837.6:c.1863C>T (RAD21) | ENSP00000430524.2:p.Ile621= | |
| ENST00000520992.6:c.1863C>T (RAD21) | ENSP00000429342.2:p.Ile621= | |
| ENST00000522699.2:c.1863C>T (RAD21) | ENSP00000428158.2:p.Ile621= | |
| ENST00000523986.6:n.4832C>T (RAD21) | ||
| ENST00000685972.1:n.5166C>T (RAD21) | ||
| ENST00000687122.1:n.4691C>T (RAD21) | ||
| ENST00000687358.1:c.1863C>T (RAD21) | ENSP00000509687.1:p.Ile621= | |
| ENST00000687902.1:c.*238C>T (RAD21) | ENSP00000510729.1:n.*238C>T | |
| ENST00000689124.1:n.2077C>T (RAD21) | ||
| ENST00000689154.1:n.1755C>T (RAD21) | ||
| ENST00000690166.1:n.6732C>T (RAD21) | ||
| ENST00000297338.7:c.1863C>T (RAD21) MANE Select | ENSP00000297338.2:p.Ile621= | |
| ENST00000297338.6:c.1863C>T (RAD21) | ENSP00000297338.2:p.Ile621= | |
| ENST00000517749.1:c.177C>T (RAD21) | ENSP00000430273.1:p.Ile59= | |
| ENST00000517820.1:c.189-1355G>A (UTP23) | ENSP00000427767.1:n.189-1355G>A | |
| ENST00000518055.1:c.498C>T (RAD21) | ENSP00000428003.1:p.Ile166= | |
| ENST00000520733.5:c.46-1355G>A (UTP23) | ENSP00000429384.1:n.46-1355G>A | |
| ENST00000521703.5:c.*93-1355G>A (UTP23) | ENSP00000428455.1:n.*93-1355G>A | |
| ENST00000523986.5:c.375C>T (RAD21) | ENSP00000428513.1:p.Ile125= | |
| ENST00000524128.1:c.*93-1355G>A (UTP23) | ENSP00000430309.1:n.*93-1355G>A | |
| NM_006265.2:c.1863C>T , LRG_772t1:c.1863C>T (RAD21) | NP_006256.1:p.Ile621= | |
| XR_928356.1:n.663-1355G>A (UTP23) | ||
| NM_006265.3:c.1863C>T (RAD21) MANE Select | NP_006256.1:p.Ile621= |