Linked Data
ClinVar Variation Id:
182919
dbSNP Id:
rs730881991
ExAC:
19:1226596 T / A
gnomAD v2:
19-1226596-T-A
gnomAD v4:
19-1226597-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226597T>A , CM000681.2:g.1226597T>A | GRCh38 |
| NC_000019.9:g.1226596T>A , CM000681.1:g.1226596T>A | GRCh37 |
| NC_000019.8:g.1177596T>A | NCBI36 |
| NG_007460.2:g.42191T>A , LRG_319:g.42191T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2853T>A | ENSP00000490268.2:n.*2853T>A | |
| ENST00000585748.3:c.880T>A | ENSP00000477641.2:p.Cys294Ser | |
| ENST00000585851.2:c.1078T>A | ENSP00000467912.2:p.Cys360Ser | |
| ENST00000326873.12:c.1252T>A MANE Select | ENSP00000324856.6:p.Cys418Ser | |
| ENST00000326873.11:c.1252T>A | ENSP00000324856.6:p.Cys418Ser | |
| ENST00000585465.2:n.2985T>A | ||
| ENST00000586243.5:c.1251T>A | ENSP00000467240.2:p.Pro417= | |
| ENST00000589152.5:n.1950T>A | ||
| NM_000455.4:c.1252T>A , LRG_319t1:c.1252T>A | NP_000446.1:p.Cys418Ser | |
| XM_005259617.1:c.1247T>A | XP_005259674.1:p.Leu416Gln | |
| XM_011528209.1:c.1025T>A | XP_011526511.1:p.Leu342Gln | |
| XM_005259617.3:c.1247T>A | XP_005259674.1:p.Leu416Gln | |
| XM_011528209.2:c.1025T>A | XP_011526511.1:p.Leu342Gln | |
| XR_001753738.2:n.2058T>A | ||
| XR_001753740.2:n.2028T>A | ||
| NM_000455.5:c.1252T>A MANE Select | NP_000446.1:p.Cys418Ser |