Linked Data
ClinVar Variation Id:
427579
ClinVar RCV Id:
RCV000490602
dbSNP Id:
rs1085308039
PubMed:
PMID:28526761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933075G>T , CM000672.2:g.87933075G>T | GRCh38 |
| NC_000010.10:g.89692832G>T , CM000672.1:g.89692832G>T | GRCh37 |
| NC_000010.9:g.89682812G>T | NCBI36 |
| NG_007466.2:g.74637G>T , LRG_311:g.74637G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.316G>T | ENSP00000514759.2:p.Glu106Ter | |
| ENST00000710265.1:c.316G>T | ENSP00000518161.1:p.Glu106Ter | |
| ENST00000472832.3:c.316G>T | ENSP00000483066.2:p.Glu106Ter | |
| ENST00000688158.2:n.1051G>T | ||
| ENST00000688922.2:c.*146G>T | ENSP00000508742.2:n.*146G>T | |
| ENST00000700021.1:c.271G>T | ENSP00000514757.1:p.Glu91Ter | |
| ENST00000700022.1:c.316G>T | ENSP00000514758.1:p.Glu106Ter | |
| ENST00000700029.1:c.150G>T | ||
| ENST00000706954.1:c.316G>T | ENSP00000516674.1:p.Glu106Ter | |
| ENST00000706955.1:c.*351G>T | ENSP00000516675.1:n.*351G>T | |
| ENST00000686459.1:c.316G>T | ENSP00000508909.1:p.Glu106Ter | |
| ENST00000688158.1:c.*427G>T | ENSP00000509254.1:n.*427G>T | |
| ENST00000688308.1:c.316G>T | ENSP00000508752.1:p.Glu106Ter | |
| ENST00000688922.1:c.237G>T | ||
| ENST00000693560.1:c.835G>T | ENSP00000509861.1:p.Glu279Ter | |
| ENST00000371953.8:c.316G>T MANE Select | ENSP00000361021.3:p.Glu106Ter | |
| ENST00000371953.7:c.316G>T | ENSP00000361021.3:p.Glu106Ter | |
| ENST00000498703.1:n.142G>T | ||
| ENST00000610634.1:c.214G>T | ENSP00000477517.1:p.Glu72Ter | |
| NM_000314.5:c.316G>T | NP_000305.3:p.Glu106Ter | |
| NM_000314.6:c.316G>T | NP_000305.3:p.Glu106Ter | |
| NM_001304717.2:c.835G>T | NP_001291646.2:p.Glu279Ter | |
| NM_001304718.1:c.-435G>T | NP_001291647.1:n.-435G>T | |
| XM_006717926.2:c.271G>T | XP_006717989.1:p.Glu91Ter | |
| XM_011539981.1:c.316G>T | XP_011538283.1:p.Glu106Ter | |
| XM_011539982.1:c.220G>T | XP_011538284.1:p.Glu74Ter | |
| XR_945789.1:n.1028G>T | ||
| XR_945790.1:n.1028G>T | ||
| XR_945791.1:n.1028G>T | ||
| NM_000314.7:c.316G>T | NP_000305.3:p.Glu106Ter | |
| NM_001304717.5:c.835G>T | NP_001291646.4:p.Glu279Ter | |
| NM_001304718.2:c.-435G>T | NP_001291647.1:n.-435G>T | |
| NM_000314.8:c.316G>T MANE Select | NP_000305.3:p.Glu106Ter |