Linked Data
ClinVar Variation Id:
216427
dbSNP Id:
rs565993396
ExAC:
19:1226518 A / G
gnomAD v2:
19-1226518-A-G
gnomAD v3:
19-1226519-A-G
gnomAD v4:
19-1226519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226519A>G , CM000681.2:g.1226519A>G | GRCh38 |
| NC_000019.9:g.1226518A>G , CM000681.1:g.1226518A>G | GRCh37 |
| NC_000019.8:g.1177518A>G | NCBI36 |
| NG_007460.2:g.42113A>G , LRG_319:g.42113A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2775A>G | ENSP00000490268.2:n.*2775A>G | |
| ENST00000585748.3:c.802A>G | ENSP00000477641.2:p.Met268Val | |
| ENST00000585851.2:c.1000A>G | ENSP00000467912.2:p.Met334Val | |
| ENST00000326873.12:c.1174A>G MANE Select | ENSP00000324856.6:p.Met392Val | |
| ENST00000326873.11:c.1174A>G | ENSP00000324856.6:p.Met392Val | |
| ENST00000585465.2:n.2907A>G | ||
| ENST00000586243.5:c.1174A>G | ENSP00000467240.2:p.Met392Val | |
| ENST00000589152.5:n.1872A>G | ||
| NM_000455.4:c.1174A>G , LRG_319t1:c.1174A>G | NP_000446.1:p.Met392Val | |
| XM_005259617.1:c.1169A>G | XP_005259674.1:p.Tyr390Cys | |
| XM_011528209.1:c.947A>G | XP_011526511.1:p.Tyr316Cys | |
| XM_005259617.3:c.1169A>G | XP_005259674.1:p.Tyr390Cys | |
| XM_011528209.2:c.947A>G | XP_011526511.1:p.Tyr316Cys | |
| XR_001753738.2:n.1980A>G | ||
| XR_001753740.2:n.1950A>G | ||
| NM_000455.5:c.1174A>G MANE Select | NP_000446.1:p.Met392Val |