Linked Data
ClinVar Variation Id:
403769
dbSNP Id:
rs748112446
ExAC:
19:1221227 G / A
gnomAD v2:
19-1221227-G-A
gnomAD v4:
19-1221228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221228G>A , CM000681.2:g.1221228G>A | GRCh38 |
| NC_000019.9:g.1221227G>A , CM000681.1:g.1221227G>A | GRCh37 |
| NC_000019.8:g.1172227G>A | NCBI36 |
| NG_007460.2:g.36822G>A , LRG_319:g.36822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.750G>A | ENSP00000490268.2:p.Thr250= | |
| ENST00000585748.3:c.378G>A | ENSP00000477641.2:p.Thr126= | |
| ENST00000585851.2:c.576G>A | ENSP00000467912.2:p.Thr192= | |
| ENST00000326873.12:c.750G>A MANE Select | ENSP00000324856.6:p.Thr250= | |
| ENST00000652231.1:c.750G>A | ENSP00000498804.1:p.Thr250= | |
| ENST00000326873.11:c.750G>A | ENSP00000324856.6:p.Thr250= | |
| ENST00000586243.5:c.750G>A | ENSP00000467240.2:p.Thr250= | |
| ENST00000586358.5:n.648G>A | ||
| ENST00000589152.5:n.840G>A | ||
| ENST00000591133.2:n.721G>A | ||
| NM_000455.4:c.750G>A , LRG_319t1:c.750G>A | NP_000446.1:p.Thr250= | |
| XM_005259617.1:c.750G>A | XP_005259674.1:p.Thr250= | |
| XM_005259618.3:c.750G>A | XP_005259675.1:p.Thr250= | |
| XM_011528209.1:c.528G>A | XP_011526511.1:p.Thr176= | |
| XR_936204.1:n.1375G>A | ||
| XM_005259617.3:c.750G>A | XP_005259674.1:p.Thr250= | |
| XM_011528209.2:c.528G>A | XP_011526511.1:p.Thr176= | |
| XR_001753738.2:n.1375G>A | ||
| XR_001753739.1:n.1375G>A | ||
| XR_001753740.2:n.1375G>A | ||
| NM_000455.5:c.750G>A MANE Select | NP_000446.1:p.Thr250= |