Linked Data
ClinVar Variation Id:
630400
dbSNP Id:
rs768870802
gnomAD v2:
19-1226473-G-A
gnomAD v3:
19-1226474-G-A
gnomAD v4:
19-1226474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226474G>A , CM000681.2:g.1226474G>A | GRCh38 |
| NC_000019.9:g.1226473G>A , CM000681.1:g.1226473G>A | GRCh37 |
| NC_000019.8:g.1177473G>A | NCBI36 |
| NG_007460.2:g.42068G>A , LRG_319:g.42068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2730G>A | ENSP00000490268.2:n.*2730G>A | |
| ENST00000585748.3:c.757G>A | ENSP00000477641.2:p.Ala253Thr | |
| ENST00000585851.2:c.955G>A | ENSP00000467912.2:p.Ala319Thr | |
| ENST00000326873.12:c.1129G>A MANE Select | ENSP00000324856.6:p.Ala377Thr | |
| ENST00000326873.11:c.1129G>A | ENSP00000324856.6:p.Ala377Thr | |
| ENST00000585465.2:n.2862G>A | ||
| ENST00000586243.5:c.1129G>A | ENSP00000467240.2:p.Ala377Thr | |
| ENST00000589152.5:n.1827G>A | ||
| NM_000455.4:c.1129G>A , LRG_319t1:c.1129G>A | NP_000446.1:p.Ala377Thr | |
| XM_005259617.1:c.1124G>A | XP_005259674.1:p.Gly375Asp | |
| XM_011528209.1:c.902G>A | XP_011526511.1:p.Gly301Asp | |
| XM_005259617.3:c.1124G>A | XP_005259674.1:p.Gly375Asp | |
| XM_011528209.2:c.902G>A | XP_011526511.1:p.Gly301Asp | |
| XR_001753738.2:n.1935G>A | ||
| XR_001753740.2:n.1905G>A | ||
| NM_000455.5:c.1129G>A MANE Select | NP_000446.1:p.Ala377Thr |