Linked Data
ClinVar Variation Id:
185348
dbSNP Id:
rs786202106
gnomAD v3:
17-43090985-A-T
gnomAD v4:
17-43090985-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090985A>T , CM000679.2:g.43090985A>T | GRCh38 |
| NC_000017.10:g.41243002A>T , CM000679.1:g.41243002A>T | GRCh37 |
| NC_000017.9:g.38496528A>T | NCBI36 |
| NG_005905.2:g.126999T>A , LRG_292:g.126999T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4144T>A | ENSP00000417241.2:p.Cys1382Ser | |
| ENST00000470026.6:c.4144T>A | ENSP00000419274.2:p.Cys1382Ser | |
| ENST00000473961.6:c.4018T>A | ENSP00000420201.2:p.Cys1340Ser | |
| ENST00000476777.6:c.4141T>A | ENSP00000417554.2:p.Cys1381Ser | |
| ENST00000477152.6:c.4066T>A | ENSP00000419988.2:p.Cys1356Ser | |
| ENST00000478531.6:c.832T>A | ENSP00000420412.2:p.Cys278Ser | |
| ENST00000489037.2:c.4066T>A | ENSP00000420781.2:p.Cys1356Ser | |
| ENST00000493919.6:c.694T>A | ENSP00000418819.2:p.Cys232Ser | |
| ENST00000494123.6:c.4144T>A | ENSP00000419103.2:p.Cys1382Ser | |
| ENST00000497488.2:c.3256T>A | ENSP00000418986.2:p.Cys1086Ser | |
| ENST00000618469.2:c.4144T>A | ENSP00000478114.2:p.Cys1382Ser | |
| ENST00000634433.2:c.4021T>A | ENSP00000489431.2:p.Cys1341Ser | |
| ENST00000644379.2:c.4144T>A | ENSP00000496570.2:p.Cys1382Ser | |
| ENST00000644555.2:c.694T>A | ENSP00000494614.2:p.Cys232Ser | |
| ENST00000652672.2:c.4003T>A | ENSP00000498906.2:p.Cys1335Ser | |
| ENST00000484087.6:c.712T>A | ENSP00000419481.2:p.Cys238Ser | |
| ENST00000700182.1:c.754T>A | ENSP00000514849.1:p.Cys252Ser | |
| ENST00000357654.9:c.4144T>A MANE Select | ENSP00000350283.3:p.Cys1382Ser | |
| ENST00000471181.7:c.4144T>A | ENSP00000418960.2:p.Cys1382Ser | |
| ENST00000644379.1:c.465T>A | ||
| ENST00000352993.7:c.718T>A | ENSP00000312236.5:p.Cys240Ser | |
| ENST00000357654.7:c.4144T>A | ENSP00000350283.3:p.Cys1382Ser | |
| ENST00000461221.5:c.*3927T>A | ENSP00000418548.1:n.*3927T>A | |
| ENST00000461574.1:c.438T>A | ||
| ENST00000468300.5:c.835T>A | ENSP00000417148.1:p.Cys279Ser | |
| ENST00000471181.6:c.4144T>A | ENSP00000418960.2:p.Cys1382Ser | |
| ENST00000478531.5:c.832T>A | ENSP00000420412.1:p.Cys278Ser | |
| ENST00000484087.5:c.457T>A | ENSP00000419481.1:p.Cys153Ser | |
| ENST00000487825.5:c.460T>A | ENSP00000418212.1:p.Cys154Ser | |
| ENST00000491747.6:c.835T>A | ENSP00000420705.2:p.Cys279Ser | |
| ENST00000493795.5:c.4003T>A | ENSP00000418775.1:p.Cys1335Ser | |
| ENST00000493919.5:c.694T>A | ENSP00000418819.1:p.Cys232Ser | |
| ENST00000586385.5:c.5-27034T>A | ENSP00000465818.1:n.5-27034T>A | |
| ENST00000591534.5:c.-43-16464T>A | ENSP00000467329.1:n.-43-16464T>A | |
| ENST00000591849.5:c.-99+34286T>A | ENSP00000465347.1:n.-99+34286T>A | |
| NM_007294.3:c.4144T>A , LRG_292t1:c.4144T>A | NP_009225.1:p.Cys1382Ser | |
| NM_007297.3:c.4003T>A | NP_009228.2:p.Cys1335Ser | |
| NM_007298.3:c.835T>A | NP_009229.2:p.Cys279Ser | |
| NM_007299.3:c.835T>A | NP_009230.2:p.Cys279Ser | |
| NM_007300.3:c.4144T>A | NP_009231.2:p.Cys1382Ser | |
| NR_027676.1:n.4280T>A | ||
| NM_007294.4:c.4144T>A MANE Select | NP_009225.1:p.Cys1382Ser | |
| NM_007297.4:c.4003T>A | NP_009228.2:p.Cys1335Ser | |
| NM_007299.4:c.835T>A | NP_009230.2:p.Cys279Ser | |
| NM_007300.4:c.4144T>A | NP_009231.2:p.Cys1382Ser | |
| NR_027676.2:n.4321T>A |