Linked Data
ClinVar Variation Id:
266472
ClinVar RCV Id:
RCV000257590
dbSNP Id:
rs886040227
gnomAD v4:
17-43076608-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076608A>C , CM000679.2:g.43076608A>C | GRCh38 |
| NC_000017.10:g.41228625A>C , CM000679.1:g.41228625A>C | GRCh37 |
| NC_000017.9:g.38482151A>C | NCBI36 |
| NG_005905.2:g.141376T>G , LRG_292:g.141376T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4361T>G | ENSP00000417241.2:p.Leu1454Ter | |
| ENST00000470026.6:c.4364T>G | ENSP00000419274.2:p.Leu1455Ter | |
| ENST00000473961.6:c.4238T>G | ENSP00000420201.2:p.Leu1413Ter | |
| ENST00000476777.6:c.4358T>G | ENSP00000417554.2:p.Leu1453Ter | |
| ENST00000477152.6:c.4286T>G | ENSP00000419988.2:p.Leu1429Ter | |
| ENST00000478531.6:c.1052T>G | ENSP00000420412.2:p.Leu351Ter | |
| ENST00000489037.2:c.4286T>G | ENSP00000420781.2:p.Leu1429Ter | |
| ENST00000493919.6:c.914T>G | ENSP00000418819.2:p.Leu305Ter | |
| ENST00000494123.6:c.4364T>G | ENSP00000419103.2:p.Leu1455Ter | |
| ENST00000497488.2:c.3476T>G | ENSP00000418986.2:p.Leu1159Ter | |
| ENST00000618469.2:c.4364T>G | ENSP00000478114.2:p.Leu1455Ter | |
| ENST00000634433.2:c.4241T>G | ENSP00000489431.2:p.Leu1414Ter | |
| ENST00000644379.2:c.4430T>G | ENSP00000496570.2:p.Leu1477Ter | |
| ENST00000644555.2:c.914T>G | ENSP00000494614.2:p.Leu305Ter | |
| ENST00000652672.2:c.4223T>G | ENSP00000498906.2:p.Leu1408Ter | |
| ENST00000484087.6:c.926T>G | ENSP00000419481.2:p.Leu309Ter | |
| ENST00000700182.1:c.971T>G | ENSP00000514849.1:p.Leu324Ter | |
| ENST00000357654.9:c.4364T>G MANE Select | ENSP00000350283.3:p.Leu1455Ter | |
| ENST00000471181.7:c.4427T>G | ENSP00000418960.2:p.Leu1476Ter | |
| ENST00000644379.1:c.751T>G | ||
| ENST00000352993.7:c.938T>G | ENSP00000312236.5:p.Leu313Ter | |
| ENST00000357654.7:c.4364T>G | ENSP00000350283.3:p.Leu1455Ter | |
| ENST00000461221.5:c.*4147T>G | ENSP00000418548.1:n.*4147T>G | |
| ENST00000461574.1:c.655T>G | ||
| ENST00000468300.5:c.1052T>G | ENSP00000417148.1:p.Leu351Ter | |
| ENST00000471181.6:c.4427T>G | ENSP00000418960.2:p.Leu1476Ter | |
| ENST00000478531.5:c.1052T>G | ENSP00000420412.1:p.Leu351Ter | |
| ENST00000484087.5:c.677T>G | ENSP00000419481.1:p.Leu226Ter | |
| ENST00000487825.5:c.680T>G | ENSP00000418212.1:p.Leu227Ter | |
| ENST00000491747.6:c.1052T>G | ENSP00000420705.2:p.Leu351Ter | |
| ENST00000493795.5:c.4223T>G | ENSP00000418775.1:p.Leu1408Ter | |
| ENST00000493919.5:c.914T>G | ENSP00000418819.1:p.Leu305Ter | |
| ENST00000586385.5:c.5-12657T>G | ENSP00000465818.1:n.5-12657T>G | |
| ENST00000591534.5:c.-43-2087T>G | ENSP00000467329.1:n.-43-2087T>G | |
| ENST00000591849.5:c.-98-26418T>G | ENSP00000465347.1:n.-98-26418T>G | |
| ENST00000621897.1:n.255T>G | ||
| NM_007294.3:c.4364T>G , LRG_292t1:c.4364T>G | NP_009225.1:p.Leu1455Ter | |
| NM_007297.3:c.4223T>G | NP_009228.2:p.Leu1408Ter | |
| NM_007298.3:c.1052T>G | NP_009229.2:p.Leu351Ter | |
| NM_007299.3:c.1052T>G | NP_009230.2:p.Leu351Ter | |
| NM_007300.3:c.4427T>G | NP_009231.2:p.Leu1476Ter | |
| NR_027676.1:n.4500T>G | ||
| NM_007294.4:c.4364T>G MANE Select | NP_009225.1:p.Leu1455Ter | |
| NM_007297.4:c.4223T>G | NP_009228.2:p.Leu1408Ter | |
| NM_007299.4:c.1052T>G | NP_009230.2:p.Leu351Ter | |
| NM_007300.4:c.4427T>G | NP_009231.2:p.Leu1476Ter | |
| NR_027676.2:n.4541T>G |