Linked Data
ClinVar Variation Id:
1779051
ClinVar RCV Id:
RCV002399232
dbSNP Id:
rs780599047
ExAC:
8:117859900 T / C
gnomAD v2:
8-117859900-T-C
gnomAD v3:
8-116847661-T-C
gnomAD v4:
8-116847661-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116847661T>C , CM000670.2:g.116847661T>C | GRCh38 |
| NC_000008.10:g.117859900T>C , CM000670.1:g.117859900T>C | GRCh37 |
| NC_000008.9:g.117929081T>C | NCBI36 |
| NG_032862.1:g.32206A>G , LRG_772:g.32206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517485.6:c.1735A>G (RAD21) | ENSP00000427923.2:p.Ile579Val | |
| ENST00000517749.2:c.1735A>G (RAD21) | ENSP00000430273.2:p.Ile579Val | |
| ENST00000519837.6:c.1735A>G (RAD21) | ENSP00000430524.2:p.Ile579Val | |
| ENST00000520992.6:c.1735A>G (RAD21) | ENSP00000429342.2:p.Ile579Val | |
| ENST00000522699.2:c.1735A>G (RAD21) | ENSP00000428158.2:p.Ile579Val | |
| ENST00000523986.6:n.4704A>G (RAD21) | ||
| ENST00000685972.1:n.5038A>G (RAD21) | ||
| ENST00000687122.1:n.4563A>G (RAD21) | ||
| ENST00000687358.1:c.1735A>G (RAD21) | ENSP00000509687.1:p.Ile579Val | |
| ENST00000687902.1:c.*110A>G (RAD21) | ENSP00000510729.1:n.*110A>G | |
| ENST00000689124.1:n.1949A>G (RAD21) | ||
| ENST00000689154.1:n.1627A>G (RAD21) | ||
| ENST00000690166.1:n.6604A>G (RAD21) | ||
| ENST00000297338.7:c.1735A>G (RAD21) MANE Select | ENSP00000297338.2:p.Ile579Val | |
| ENST00000297338.6:c.1735A>G (RAD21) | ENSP00000297338.2:p.Ile579Val | |
| ENST00000517749.1:c.49A>G (RAD21) | ENSP00000430273.1:p.Ile17Val | |
| ENST00000517820.1:c.189-1227T>C (UTP23) | ENSP00000427767.1:n.189-1227T>C | |
| ENST00000518055.1:c.370A>G (RAD21) | ENSP00000428003.1:p.Ile124Val | |
| ENST00000520733.5:c.46-1227T>C (UTP23) | ENSP00000429384.1:n.46-1227T>C | |
| ENST00000521703.5:c.*93-1227T>C (UTP23) | ENSP00000428455.1:n.*93-1227T>C | |
| ENST00000523986.5:c.247A>G (RAD21) | ENSP00000428513.1:p.Ile83Val | |
| ENST00000524128.1:c.*93-1227T>C (UTP23) | ENSP00000430309.1:n.*93-1227T>C | |
| NM_006265.2:c.1735A>G , LRG_772t1:c.1735A>G (RAD21) | NP_006256.1:p.Ile579Val | |
| XR_928356.1:n.663-1227T>C (UTP23) | ||
| NM_006265.3:c.1735A>G (RAD21) MANE Select | NP_006256.1:p.Ile579Val |