Linked Data
ClinVar Variation Id:
198732
dbSNP Id:
rs759473833
ExAC:
19:1223132 G / A
gnomAD v2:
19-1223132-G-A
gnomAD v3:
19-1223133-G-A
gnomAD v4:
19-1223133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223133G>A , CM000681.2:g.1223133G>A | GRCh38 |
| NC_000019.9:g.1223132G>A , CM000681.1:g.1223132G>A | GRCh37 |
| NC_000019.8:g.1174132G>A | NCBI36 |
| NG_007460.2:g.38727G>A , LRG_319:g.38727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1069G>A | ENSP00000490268.2:p.Glu357Lys | |
| ENST00000585748.3:c.697G>A | ENSP00000477641.2:p.Glu233Lys | |
| ENST00000585851.2:c.895G>A | ENSP00000467912.2:p.Glu299Lys | |
| ENST00000326873.12:c.1069G>A MANE Select | ENSP00000324856.6:p.Glu357Lys | |
| ENST00000652231.1:c.1069G>A | ENSP00000498804.1:p.Glu357Lys | |
| ENST00000326873.11:c.1069G>A | ENSP00000324856.6:p.Glu357Lys | |
| ENST00000586243.5:c.1069G>A | ENSP00000467240.2:p.Glu357Lys | |
| ENST00000589152.5:n.1767G>A | ||
| NM_000455.4:c.1069G>A , LRG_319t1:c.1069G>A | NP_000446.1:p.Glu357Lys | |
| XM_005259617.1:c.1069G>A | XP_005259674.1:p.Glu357Lys | |
| XM_005259618.3:c.1069G>A | XP_005259675.1:p.Glu357Lys | |
| XM_011528209.1:c.847G>A | XP_011526511.1:p.Glu283Lys | |
| XR_936204.1:n.1845G>A | ||
| XM_005259617.3:c.1069G>A | XP_005259674.1:p.Glu357Lys | |
| XM_011528209.2:c.847G>A | XP_011526511.1:p.Glu283Lys | |
| XR_001753738.2:n.1875G>A | ||
| XR_001753739.1:n.1875G>A | ||
| XR_001753740.2:n.1845G>A | ||
| NM_000455.5:c.1069G>A MANE Select | NP_000446.1:p.Glu357Lys |