Linked Data
ClinVar Variation Id:
237794
dbSNP Id:
rs762482152
ExAC:
19:1226602 G / A
gnomAD v2:
19-1226602-G-A
gnomAD v4:
19-1226603-G-A
PubMed:
PMID:19145097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226603G>A , CM000681.2:g.1226603G>A | GRCh38 |
| NC_000019.9:g.1226602G>A , CM000681.1:g.1226602G>A | GRCh37 |
| NC_000019.8:g.1177602G>A | NCBI36 |
| NG_007460.2:g.42197G>A , LRG_319:g.42197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2859G>A | ENSP00000490268.2:n.*2859G>A | |
| ENST00000585748.3:c.886G>A | ENSP00000477641.2:p.Ala296Thr | |
| ENST00000585851.2:c.1084G>A | ENSP00000467912.2:p.Ala362Thr | |
| ENST00000326873.12:c.1258G>A MANE Select | ENSP00000324856.6:p.Ala420Thr | |
| ENST00000326873.11:c.1258G>A | ENSP00000324856.6:p.Ala420Thr | |
| ENST00000585465.2:n.2991G>A | ||
| ENST00000586243.5:c.1255G>A | ENSP00000467240.2:p.Ala419Thr | |
| ENST00000589152.5:n.1956G>A | ||
| NM_000455.4:c.1258G>A , LRG_319t1:c.1258G>A | NP_000446.1:p.Ala420Thr | |
| XM_005259617.1:c.1253G>A | XP_005259674.1:p.Arg418His | |
| XM_011528209.1:c.1031G>A | XP_011526511.1:p.Arg344His | |
| XM_005259617.3:c.1253G>A | XP_005259674.1:p.Arg418His | |
| XM_011528209.2:c.1031G>A | XP_011526511.1:p.Arg344His | |
| XR_001753738.2:n.2064G>A | ||
| XR_001753740.2:n.2034G>A | ||
| NM_000455.5:c.1258G>A MANE Select | NP_000446.1:p.Ala420Thr |