Linked Data
ClinVar Variation Id:
485011
dbSNP Id:
rs1271482574
gnomAD v2:
19-1206918-G-A
gnomAD v3:
19-1206919-G-A
gnomAD v4:
19-1206919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1206919G>A , CM000681.2:g.1206919G>A | GRCh38 |
| NC_000019.9:g.1206918G>A , CM000681.1:g.1206918G>A | GRCh37 |
| NC_000019.8:g.1157918G>A | NCBI36 |
| NG_007460.2:g.22513G>A , LRG_319:g.22513G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.6G>A | ENSP00000490268.2:p.Glu2= | |
| ENST00000585748.3:c.-82-11498G>A | ENSP00000477641.2:n.-82-11498G>A | |
| ENST00000585851.2:c.6G>A | ENSP00000467912.2:p.Glu2= | |
| ENST00000326873.12:c.6G>A MANE Select | ENSP00000324856.6:p.Glu2= | |
| ENST00000652231.1:c.6G>A | ENSP00000498804.1:p.Glu2= | |
| ENST00000326873.11:c.6G>A | ENSP00000324856.6:p.Glu2= | |
| ENST00000585748.2:c.-82-11498G>A | ENSP00000477641.1:n.-82-11498G>A | |
| ENST00000585851.1:c.6G>A | ENSP00000467912.1:p.Glu2= | |
| ENST00000586243.5:c.6G>A | ENSP00000467240.2:p.Glu2= | |
| ENST00000589152.5:n.96G>A | ||
| ENST00000593219.5:c.6G>A | ENSP00000466610.1:p.Glu2= | |
| NM_000455.4:c.6G>A , LRG_319t1:c.6G>A | NP_000446.1:p.Glu2= | |
| XM_005259617.1:c.6G>A | XP_005259674.1:p.Glu2= | |
| XM_005259618.3:c.6G>A | XP_005259675.1:p.Glu2= | |
| XM_011528209.1:c.-348G>A | XP_011526511.1:n.-348G>A | |
| XR_936204.1:n.631G>A | ||
| XM_005259617.3:c.6G>A | XP_005259674.1:p.Glu2= | |
| XM_011528209.2:c.-348G>A | XP_011526511.1:n.-348G>A | |
| XR_001753738.2:n.631G>A | ||
| XR_001753739.1:n.631G>A | ||
| XR_001753740.2:n.631G>A | ||
| NM_000455.5:c.6G>A MANE Select | NP_000446.1:p.Glu2= |