Linked Data
ClinVar Variation Id:
2653629
ClinVar RCV Id:
RCV003437732
dbSNP Id:
rs757567712
ExAC:
3:25636078 A / G
gnomAD v2:
3-25636078-A-G
gnomAD v4:
3-25594587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25594587A>G , CM000665.2:g.25594587A>G | GRCh38 |
| NC_000003.11:g.25636078A>G , CM000665.1:g.25636078A>G | GRCh37 |
| NC_000003.10:g.25611082A>G | NCBI36 |
| NG_029013.1:g.171325A>G | |
| NG_029013.3:g.770265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383772.9:c.1080A>G | ENSP00000373282.5:p.Lys360= | |
| ENST00000437042.7:c.723A>G | ENSP00000398840.2:p.Lys241= | |
| ENST00000458646.2:c.723A>G | ENSP00000391391.1:p.Lys241= | |
| ENST00000462272.6:n.1004A>G | ||
| ENST00000479097.6:c.*448A>G | ENSP00000508755.1:n.*448A>G | |
| ENST00000480001.6:c.*35A>G | ENSP00000510647.1:n.*35A>G | |
| ENST00000685523.1:c.*895A>G | ENSP00000508765.1:n.*895A>G | |
| ENST00000686715.1:c.1080A>G | ENSP00000510539.1:p.Lys360= | |
| ENST00000687083.1:c.787-1833A>G | ENSP00000509681.1:n.787-1833A>G | |
| ENST00000687353.1:c.1080A>G | ENSP00000508588.1:p.Lys360= | |
| ENST00000687676.1:c.1080A>G | ENSP00000510313.1:p.Lys360= | |
| ENST00000688892.1:c.1080A>G | ENSP00000510650.1:p.Lys360= | |
| ENST00000689700.1:c.805A>G | ENSP00000510200.1:n.805A>G | |
| ENST00000690398.1:c.*674A>G | ENSP00000510044.1:n.*674A>G | |
| ENST00000691580.1:c.888A>G | ||
| ENST00000691912.1:c.921A>G | ENSP00000510520.1:p.Lys307= | |
| ENST00000693261.1:c.723A>G | ENSP00000508421.1:p.Lys241= | |
| ENST00000693580.1:c.371A>G | ENSP00000510405.1:n.371A>G | |
| ENST00000330688.9:c.1059A>G MANE Select | ENSP00000332296.4:p.Lys353= | |
| ENST00000330688.8:c.1059A>G | ENSP00000332296.4:p.Lys353= | |
| ENST00000383772.8:c.1080A>G | ENSP00000373282.4:p.Lys360= | |
| ENST00000437042.6:c.723A>G | ENSP00000398840.2:p.Lys241= | |
| ENST00000458646.1:c.723A>G | ENSP00000391391.1:p.Lys241= | |
| ENST00000462272.5:n.937A>G | ||
| ENST00000479097.5:n.914A>G | ||
| ENST00000480001.5:n.870A>G | ||
| NM_000965.4:c.1059A>G | NP_000956.2:p.Lys353= | |
| NM_001290216.1:c.1080A>G | NP_001277145.1:p.Lys360= | |
| NM_001290217.1:c.723A>G | NP_001277146.1:p.Lys241= | |
| NM_001290266.1:c.912A>G | NP_001277195.1:p.Lys304= | |
| NM_001290276.1:c.723A>G | NP_001277205.1:p.Lys241= | |
| NM_001290277.1:c.921A>G | NP_001277206.1:p.Lys307= | |
| NM_001290300.1:c.930A>G | NP_001277229.1:p.Lys310= | |
| NM_016152.3:c.723A>G | NP_057236.1:p.Lys241= | |
| NR_110892.1:n.1367A>G | ||
| NR_110893.1:n.1323A>G | ||
| NM_001290216.2:c.1080A>G | NP_001277145.1:p.Lys360= | |
| NM_000965.5:c.1059A>G MANE Select | NP_000956.2:p.Lys353= | |
| NM_001290216.3:c.1080A>G | NP_001277145.1:p.Lys360= | |
| NM_001290217.2:c.723A>G | NP_001277146.1:p.Lys241= | |
| NM_001290266.2:c.912A>G | NP_001277195.1:p.Lys304= | |
| NM_001290276.2:c.723A>G | NP_001277205.1:p.Lys241= | |
| NM_001290300.2:c.930A>G | NP_001277229.1:p.Lys310= | |
| NM_016152.4:c.723A>G | NP_057236.1:p.Lys241= | |
| NR_110892.2:n.1367A>G | ||
| NR_110893.2:n.1323A>G |