Linked Data
ClinVar Variation Id:
2111745
ClinVar RCV Id:
RCV003022699
dbSNP Id:
rs886040228
gnomAD v4:
17-43076597-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076597T>C , CM000679.2:g.43076597T>C | GRCh38 |
| NC_000017.10:g.41228614T>C , CM000679.1:g.41228614T>C | GRCh37 |
| NC_000017.9:g.38482140T>C | NCBI36 |
| NG_005905.2:g.141387A>G , LRG_292:g.141387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4372A>G | ENSP00000417241.2:p.Lys1458Glu | |
| ENST00000470026.6:c.4375A>G | ENSP00000419274.2:p.Lys1459Glu | |
| ENST00000473961.6:c.4249A>G | ENSP00000420201.2:p.Lys1417Glu | |
| ENST00000476777.6:c.4369A>G | ENSP00000417554.2:p.Lys1457Glu | |
| ENST00000477152.6:c.4297A>G | ENSP00000419988.2:p.Lys1433Glu | |
| ENST00000478531.6:c.1063A>G | ENSP00000420412.2:p.Lys355Glu | |
| ENST00000489037.2:c.4297A>G | ENSP00000420781.2:p.Lys1433Glu | |
| ENST00000493919.6:c.925A>G | ENSP00000418819.2:p.Lys309Glu | |
| ENST00000494123.6:c.4375A>G | ENSP00000419103.2:p.Lys1459Glu | |
| ENST00000497488.2:c.3487A>G | ENSP00000418986.2:p.Lys1163Glu | |
| ENST00000618469.2:c.4375A>G | ENSP00000478114.2:p.Lys1459Glu | |
| ENST00000634433.2:c.4252A>G | ENSP00000489431.2:p.Lys1418Glu | |
| ENST00000644379.2:c.4441A>G | ENSP00000496570.2:p.Lys1481Glu | |
| ENST00000644555.2:c.925A>G | ENSP00000494614.2:p.Lys309Glu | |
| ENST00000652672.2:c.4234A>G | ENSP00000498906.2:p.Lys1412Glu | |
| ENST00000484087.6:c.937A>G | ENSP00000419481.2:p.Lys313Glu | |
| ENST00000700182.1:c.982A>G | ENSP00000514849.1:p.Lys328Glu | |
| ENST00000357654.9:c.4375A>G MANE Select | ENSP00000350283.3:p.Lys1459Glu | |
| ENST00000471181.7:c.4438A>G | ENSP00000418960.2:p.Lys1480Glu | |
| ENST00000644379.1:c.762A>G | ||
| ENST00000352993.7:c.949A>G | ENSP00000312236.5:p.Lys317Glu | |
| ENST00000357654.7:c.4375A>G | ENSP00000350283.3:p.Lys1459Glu | |
| ENST00000461221.5:c.*4158A>G | ENSP00000418548.1:n.*4158A>G | |
| ENST00000461574.1:c.666A>G | ||
| ENST00000468300.5:c.1063A>G | ENSP00000417148.1:p.Lys355Glu | |
| ENST00000471181.6:c.4438A>G | ENSP00000418960.2:p.Lys1480Glu | |
| ENST00000478531.5:c.1063A>G | ENSP00000420412.1:p.Lys355Glu | |
| ENST00000484087.5:c.688A>G | ENSP00000419481.1:p.Lys230Glu | |
| ENST00000487825.5:c.691A>G | ENSP00000418212.1:p.Lys231Glu | |
| ENST00000491747.6:c.1063A>G | ENSP00000420705.2:p.Lys355Glu | |
| ENST00000493795.5:c.4234A>G | ENSP00000418775.1:p.Lys1412Glu | |
| ENST00000493919.5:c.925A>G | ENSP00000418819.1:p.Lys309Glu | |
| ENST00000586385.5:c.5-12646A>G | ENSP00000465818.1:n.5-12646A>G | |
| ENST00000591534.5:c.-43-2076A>G | ENSP00000467329.1:n.-43-2076A>G | |
| ENST00000591849.5:c.-98-26407A>G | ENSP00000465347.1:n.-98-26407A>G | |
| ENST00000621897.1:n.266A>G | ||
| NM_007294.3:c.4375A>G , LRG_292t1:c.4375A>G | NP_009225.1:p.Lys1459Glu | |
| NM_007297.3:c.4234A>G | NP_009228.2:p.Lys1412Glu | |
| NM_007298.3:c.1063A>G | NP_009229.2:p.Lys355Glu | |
| NM_007299.3:c.1063A>G | NP_009230.2:p.Lys355Glu | |
| NM_007300.3:c.4438A>G | NP_009231.2:p.Lys1480Glu | |
| NR_027676.1:n.4511A>G | ||
| NM_007294.4:c.4375A>G MANE Select | NP_009225.1:p.Lys1459Glu | |
| NM_007297.4:c.4234A>G | NP_009228.2:p.Lys1412Glu | |
| NM_007299.4:c.1063A>G | NP_009230.2:p.Lys355Glu | |
| NM_007300.4:c.4438A>G | NP_009231.2:p.Lys1480Glu | |
| NR_027676.2:n.4552A>G |