Linked Data
ClinVar Variation Id:
1049902
ClinVar RCV Id:
RCV001356571
dbSNP Id:
rs80357157
gnomAD v3:
17-43082467-T-C
gnomAD v4:
17-43082467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082467T>C , CM000679.2:g.43082467T>C | GRCh38 |
| NC_000017.10:g.41234484T>C , CM000679.1:g.41234484T>C | GRCh37 |
| NC_000017.9:g.38488010T>C | NCBI36 |
| NG_005905.2:g.135517A>G , LRG_292:g.135517A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4294A>G | ENSP00000417241.2:p.Ile1432Val | |
| ENST00000470026.6:c.4294A>G | ENSP00000419274.2:p.Ile1432Val | |
| ENST00000473961.6:c.4168A>G | ENSP00000420201.2:p.Ile1390Val | |
| ENST00000476777.6:c.4288A>G | ENSP00000417554.2:p.Ile1430Val | |
| ENST00000477152.6:c.4216A>G | ENSP00000419988.2:p.Ile1406Val | |
| ENST00000478531.6:c.982A>G | ENSP00000420412.2:p.Ile328Val | |
| ENST00000489037.2:c.4216A>G | ENSP00000420781.2:p.Ile1406Val | |
| ENST00000493919.6:c.844A>G | ENSP00000418819.2:p.Ile282Val | |
| ENST00000494123.6:c.4294A>G | ENSP00000419103.2:p.Ile1432Val | |
| ENST00000497488.2:c.3406A>G | ENSP00000418986.2:p.Ile1136Val | |
| ENST00000618469.2:c.4294A>G | ENSP00000478114.2:p.Ile1432Val | |
| ENST00000634433.2:c.4171A>G | ENSP00000489431.2:p.Ile1391Val | |
| ENST00000644379.2:c.4294A>G | ENSP00000496570.2:p.Ile1432Val | |
| ENST00000644555.2:c.844A>G | ENSP00000494614.2:p.Ile282Val | |
| ENST00000652672.2:c.4153A>G | ENSP00000498906.2:p.Ile1385Val | |
| ENST00000484087.6:c.859A>G | ENSP00000419481.2:p.Ile287Val | |
| ENST00000700182.1:c.904A>G | ENSP00000514849.1:p.Ile302Val | |
| ENST00000357654.9:c.4294A>G MANE Select | ENSP00000350283.3:p.Ile1432Val | |
| ENST00000471181.7:c.4294A>G | ENSP00000418960.2:p.Ile1432Val | |
| ENST00000644379.1:c.615A>G | ||
| ENST00000352993.7:c.868A>G | ENSP00000312236.5:p.Ile290Val | |
| ENST00000357654.7:c.4294A>G | ENSP00000350283.3:p.Ile1432Val | |
| ENST00000461221.5:c.*4077A>G | ENSP00000418548.1:n.*4077A>G | |
| ENST00000461574.1:c.588A>G | ||
| ENST00000468300.5:c.985A>G | ENSP00000417148.1:p.Ile329Val | |
| ENST00000471181.6:c.4294A>G | ENSP00000418960.2:p.Ile1432Val | |
| ENST00000478531.5:c.982A>G | ENSP00000420412.1:p.Ile328Val | |
| ENST00000484087.5:c.607A>G | ENSP00000419481.1:p.Ile203Val | |
| ENST00000487825.5:c.610A>G | ENSP00000418212.1:p.Ile204Val | |
| ENST00000491747.6:c.985A>G | ENSP00000420705.2:p.Ile329Val | |
| ENST00000493795.5:c.4153A>G | ENSP00000418775.1:p.Ile1385Val | |
| ENST00000493919.5:c.844A>G | ENSP00000418819.1:p.Ile282Val | |
| ENST00000586385.5:c.5-18516A>G | ENSP00000465818.1:n.5-18516A>G | |
| ENST00000591534.5:c.-43-7946A>G | ENSP00000467329.1:n.-43-7946A>G | |
| ENST00000591849.5:c.-98-32277A>G | ENSP00000465347.1:n.-98-32277A>G | |
| ENST00000621897.1:n.188A>G | ||
| NM_007294.3:c.4294A>G , LRG_292t1:c.4294A>G | NP_009225.1:p.Ile1432Val | |
| NM_007297.3:c.4153A>G | NP_009228.2:p.Ile1385Val | |
| NM_007298.3:c.985A>G | NP_009229.2:p.Ile329Val | |
| NM_007299.3:c.985A>G | NP_009230.2:p.Ile329Val | |
| NM_007300.3:c.4294A>G | NP_009231.2:p.Ile1432Val | |
| NR_027676.1:n.4430A>G | ||
| NM_007294.4:c.4294A>G MANE Select | NP_009225.1:p.Ile1432Val | |
| NM_007297.4:c.4153A>G | NP_009228.2:p.Ile1385Val | |
| NM_007299.4:c.985A>G | NP_009230.2:p.Ile329Val | |
| NM_007300.4:c.4294A>G | NP_009231.2:p.Ile1432Val | |
| NR_027676.2:n.4471A>G |