Linked Data
ClinVar Variation Id:
527810
dbSNP Id:
rs985937027
gnomAD v2:
19-1226489-A-G
gnomAD v3:
19-1226490-A-G
gnomAD v4:
19-1226490-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226490A>G , CM000681.2:g.1226490A>G | GRCh38 |
| NC_000019.9:g.1226489A>G , CM000681.1:g.1226489A>G | GRCh37 |
| NC_000019.8:g.1177489A>G | NCBI36 |
| NG_007460.2:g.42084A>G , LRG_319:g.42084A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2746A>G | ENSP00000490268.2:n.*2746A>G | |
| ENST00000585748.3:c.773A>G | ENSP00000477641.2:p.Gln258Arg | |
| ENST00000585851.2:c.971A>G | ENSP00000467912.2:p.Gln324Arg | |
| ENST00000326873.12:c.1145A>G MANE Select | ENSP00000324856.6:p.Gln382Arg | |
| ENST00000326873.11:c.1145A>G | ENSP00000324856.6:p.Gln382Arg | |
| ENST00000585465.2:n.2878A>G | ||
| ENST00000586243.5:c.1145A>G | ENSP00000467240.2:p.Gln382Arg | |
| ENST00000589152.5:n.1843A>G | ||
| NM_000455.4:c.1145A>G , LRG_319t1:c.1145A>G | NP_000446.1:p.Gln382Arg | |
| XM_005259617.1:c.1140A>G | XP_005259674.1:p.Thr380= | |
| XM_011528209.1:c.918A>G | XP_011526511.1:p.Thr306= | |
| XM_005259617.3:c.1140A>G | XP_005259674.1:p.Thr380= | |
| XM_011528209.2:c.918A>G | XP_011526511.1:p.Thr306= | |
| XR_001753738.2:n.1951A>G | ||
| XR_001753740.2:n.1921A>G | ||
| NM_000455.5:c.1145A>G MANE Select | NP_000446.1:p.Gln382Arg |