Linked Data
ClinVar Variation Id:
35753
dbSNP Id:
rs193922709
ExAC:
11:66287166 G / A
gnomAD v2:
11-66287166-G-A
gnomAD v3:
11-66519695-G-A
gnomAD v4:
11-66519695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66519695G>A , CM000673.2:g.66519695G>A | GRCh38 |
| NC_000011.9:g.66287166G>A , CM000673.1:g.66287166G>A | GRCh37 |
| NC_000011.8:g.66043742G>A | NCBI36 |
| NG_009093.1:g.14048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.670G>A MANE Select | ENSP00000317469.7:p.Glu224Lys | |
| ENST00000318312.11:c.670G>A | ENSP00000317469.7:p.Glu224Lys | |
| ENST00000393994.4:c.670G>A | ENSP00000377563.2:p.Glu224Lys | |
| ENST00000419755.3:c.781G>A | ENSP00000398526.3:p.Glu261Lys | |
| ENST00000455748.6:c.433-1575G>A | ENSP00000405764.2:n.433-1575G>A | |
| ENST00000524458.5:c.*459G>A | ENSP00000436195.1:n.*459G>A | |
| ENST00000524907.5:n.766G>A | ||
| ENST00000525809.5:c.397G>A | ENSP00000431187.1:p.Glu133Lys | |
| ENST00000526035.5:c.*373G>A | ENSP00000434197.1:n.*373G>A | |
| ENST00000526760.5:c.*377G>A | ENSP00000432140.1:n.*377G>A | |
| ENST00000527251.5:c.*377G>A | ENSP00000434360.1:n.*377G>A | |
| ENST00000528543.1:n.192G>A | ||
| ENST00000529766.5:n.677G>A | ||
| ENST00000529953.5:n.322G>A | ||
| ENST00000529955.5:n.641G>A | ||
| ENST00000532283.1:n.13G>A | ||
| ENST00000532908.5:c.*330G>A | ENSP00000431866.1:n.*330G>A | |
| ENST00000533430.5:n.448G>A | ||
| ENST00000533557.5:c.*330G>A | ENSP00000434619.1:n.*330G>A | |
| ENST00000533644.5:c.*128G>A | ENSP00000436073.1:n.*128G>A | |
| ENST00000630659.2:c.*377G>A | ENSP00000486455.1:n.*377G>A | |
| NM_024649.4:c.670G>A | NP_078925.3:p.Glu224Lys | |
| NM_024649.5:c.670G>A MANE Select | NP_078925.3:p.Glu224Lys |