Linked Data
ClinVar Variation Id:
496396
dbSNP Id:
rs730881447
gnomAD v2:
17-41197759-G-A
gnomAD v3:
17-43045742-G-A
gnomAD v4:
17-43045742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045742G>A , CM000679.2:g.43045742G>A | GRCh38 |
| NC_000017.10:g.41197759G>A , CM000679.1:g.41197759G>A | GRCh37 |
| NC_000017.9:g.38451285G>A | NCBI36 |
| NG_005905.2:g.172242C>T , LRG_292:g.172242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5525C>T | ENSP00000417241.2:p.Ala1842Val | |
| ENST00000470026.6:c.5528C>T | ENSP00000419274.2:p.Ala1843Val | |
| ENST00000473961.6:c.5402C>T | ENSP00000420201.2:p.Ala1801Val | |
| ENST00000476777.6:c.5522C>T | ENSP00000417554.2:p.Ala1841Val | |
| ENST00000477152.6:c.5450C>T | ENSP00000419988.2:p.Ala1817Val | |
| ENST00000478531.6:c.2216C>T | ENSP00000420412.2:p.Ala739Val | |
| ENST00000489037.2:c.5450C>T | ENSP00000420781.2:p.Ala1817Val | |
| ENST00000493919.6:c.2078C>T | ENSP00000418819.2:p.Ala693Val | |
| ENST00000494123.6:c.5528C>T | ENSP00000419103.2:p.Ala1843Val | |
| ENST00000497488.2:c.4640C>T | ENSP00000418986.2:p.Ala1547Val | |
| ENST00000618469.2:c.5528C>T | ENSP00000478114.2:p.Ala1843Val | |
| ENST00000634433.2:c.5405C>T | ENSP00000489431.2:p.Ala1802Val | |
| ENST00000644379.2:c.5594C>T | ENSP00000496570.2:p.Ala1865Val | |
| ENST00000644555.2:c.2078C>T | ENSP00000494614.2:p.Ala693Val | |
| ENST00000652672.2:c.5387C>T | ENSP00000498906.2:p.Ala1796Val | |
| ENST00000484087.6:c.2090C>T | ENSP00000419481.2:p.Ala697Val | |
| ENST00000700081.1:n.1411C>T | ||
| ENST00000700082.1:n.892C>T | ||
| ENST00000357654.9:c.5528C>T MANE Select | ENSP00000350283.3:p.Ala1843Val | |
| ENST00000471181.7:c.5591C>T | ENSP00000418960.2:p.Ala1864Val | |
| ENST00000644379.1:c.1915C>T | ||
| ENST00000352993.7:c.2102C>T | ENSP00000312236.5:p.Ala701Val | |
| ENST00000357654.7:c.5528C>T | ENSP00000350283.3:p.Ala1843Val | |
| ENST00000461221.5:c.*5311C>T | ENSP00000418548.1:n.*5311C>T | |
| ENST00000468300.5:c.*42C>T | ENSP00000417148.1:n.*42C>T | |
| ENST00000471181.6:c.5591C>T | ENSP00000418960.2:p.Ala1864Val | |
| ENST00000491747.6:c.2216C>T | ENSP00000420705.2:p.Ala739Val | |
| ENST00000493795.5:c.5387C>T | ENSP00000418775.1:p.Ala1796Val | |
| ENST00000586385.5:c.458C>T | ENSP00000465818.1:p.Ala153Val | |
| ENST00000591534.5:c.1001C>T | ENSP00000467329.1:p.Ala334Val | |
| ENST00000591849.5:c.227C>T | ENSP00000465347.1:p.Ala76Val | |
| NM_007294.3:c.5528C>T , LRG_292t1:c.5528C>T | NP_009225.1:p.Ala1843Val | |
| NM_007297.3:c.5387C>T | NP_009228.2:p.Ala1796Val | |
| NM_007298.3:c.2216C>T | NP_009229.2:p.Ala739Val | |
| NM_007299.3:c.*42C>T | NP_009230.2:n.*42C>T | |
| NM_007300.3:c.5591C>T | NP_009231.2:p.Ala1864Val | |
| NR_027676.1:n.5664C>T | ||
| NM_007294.4:c.5528C>T MANE Select | NP_009225.1:p.Ala1843Val | |
| NM_007297.4:c.5387C>T | NP_009228.2:p.Ala1796Val | |
| NM_007299.4:c.*42C>T | NP_009230.2:n.*42C>T | |
| NM_007300.4:c.5591C>T | NP_009231.2:p.Ala1864Val | |
| NR_027676.2:n.5705C>T |