Linked Data
ClinVar Variation Id:
141089
dbSNP Id:
rs369744528
ExAC:
19:1223102 G / A
gnomAD v2:
19-1223102-G-A
gnomAD v3:
19-1223103-G-A
gnomAD v4:
19-1223103-G-A
PubMed:
PMID:14623934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223103G>A , CM000681.2:g.1223103G>A | GRCh38 |
| NC_000019.9:g.1223102G>A , CM000681.1:g.1223102G>A | GRCh37 |
| NC_000019.8:g.1174102G>A | NCBI36 |
| NG_007460.2:g.38697G>A , LRG_319:g.38697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1039G>A | ENSP00000490268.2:p.Ala347Thr | |
| ENST00000585748.3:c.667G>A | ENSP00000477641.2:p.Ala223Thr | |
| ENST00000585851.2:c.865G>A | ENSP00000467912.2:p.Ala289Thr | |
| ENST00000326873.12:c.1039G>A MANE Select | ENSP00000324856.6:p.Ala347Thr | |
| ENST00000652231.1:c.1039G>A | ENSP00000498804.1:p.Ala347Thr | |
| ENST00000326873.11:c.1039G>A | ENSP00000324856.6:p.Ala347Thr | |
| ENST00000586243.5:c.1039G>A | ENSP00000467240.2:p.Ala347Thr | |
| ENST00000589152.5:n.1737G>A | ||
| ENST00000591133.2:n.1010G>A | ||
| NM_000455.4:c.1039G>A , LRG_319t1:c.1039G>A | NP_000446.1:p.Ala347Thr | |
| XM_005259617.1:c.1039G>A | XP_005259674.1:p.Ala347Thr | |
| XM_005259618.3:c.1039G>A | XP_005259675.1:p.Ala347Thr | |
| XM_011528209.1:c.817G>A | XP_011526511.1:p.Ala273Thr | |
| XR_936204.1:n.1815G>A | ||
| XM_005259617.3:c.1039G>A | XP_005259674.1:p.Ala347Thr | |
| XM_011528209.2:c.817G>A | XP_011526511.1:p.Ala273Thr | |
| XR_001753738.2:n.1845G>A | ||
| XR_001753739.1:n.1845G>A | ||
| XR_001753740.2:n.1815G>A | ||
| NM_000455.5:c.1039G>A MANE Select | NP_000446.1:p.Ala347Thr |