Linked Data
ClinVar Variation Id:
961308
ClinVar RCV Id:
RCV001234981
dbSNP Id:
rs139935751
ExAC:
8:117859924 G / A
gnomAD v2:
8-117859924-G-A
gnomAD v3:
8-116847685-G-A
gnomAD v4:
8-116847685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116847685G>A , CM000670.2:g.116847685G>A | GRCh38 |
| NC_000008.10:g.117859924G>A , CM000670.1:g.117859924G>A | GRCh37 |
| NC_000008.9:g.117929105G>A | NCBI36 |
| NG_032862.1:g.32182C>T , LRG_772:g.32182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517485.6:c.1711C>T (RAD21) | ENSP00000427923.2:p.Leu571Phe | |
| ENST00000517749.2:c.1711C>T (RAD21) | ENSP00000430273.2:p.Leu571Phe | |
| ENST00000519837.6:c.1711C>T (RAD21) | ENSP00000430524.2:p.Leu571Phe | |
| ENST00000520992.6:c.1711C>T (RAD21) | ENSP00000429342.2:p.Leu571Phe | |
| ENST00000522699.2:c.1711C>T (RAD21) | ENSP00000428158.2:p.Leu571Phe | |
| ENST00000523986.6:n.4680C>T (RAD21) | ||
| ENST00000685972.1:n.5014C>T (RAD21) | ||
| ENST00000687122.1:n.4539C>T (RAD21) | ||
| ENST00000687358.1:c.1711C>T (RAD21) | ENSP00000509687.1:p.Leu571Phe | |
| ENST00000687902.1:c.*86C>T (RAD21) | ENSP00000510729.1:n.*86C>T | |
| ENST00000689124.1:n.1925C>T (RAD21) | ||
| ENST00000689154.1:n.1603C>T (RAD21) | ||
| ENST00000690166.1:n.6580C>T (RAD21) | ||
| ENST00000297338.7:c.1711C>T (RAD21) MANE Select | ENSP00000297338.2:p.Leu571Phe | |
| ENST00000297338.6:c.1711C>T (RAD21) | ENSP00000297338.2:p.Leu571Phe | |
| ENST00000517749.1:c.25C>T (RAD21) | ENSP00000430273.1:p.Leu9Phe | |
| ENST00000517820.1:c.189-1203G>A (UTP23) | ENSP00000427767.1:n.189-1203G>A | |
| ENST00000518055.1:c.346C>T (RAD21) | ENSP00000428003.1:p.Leu116Phe | |
| ENST00000520733.5:c.46-1203G>A (UTP23) | ENSP00000429384.1:n.46-1203G>A | |
| ENST00000521703.5:c.*93-1203G>A (UTP23) | ENSP00000428455.1:n.*93-1203G>A | |
| ENST00000523986.5:c.223C>T (RAD21) | ENSP00000428513.1:p.Leu75Phe | |
| ENST00000524128.1:c.*93-1203G>A (UTP23) | ENSP00000430309.1:n.*93-1203G>A | |
| NM_006265.2:c.1711C>T , LRG_772t1:c.1711C>T (RAD21) | NP_006256.1:p.Leu571Phe | |
| XR_928356.1:n.663-1203G>A (UTP23) | ||
| NM_006265.3:c.1711C>T (RAD21) MANE Select | NP_006256.1:p.Leu571Phe |