Linked Data
ClinVar Variation Id:
245993
dbSNP Id:
rs749465132
ExAC:
17:41215388 C / A
gnomAD v2:
17-41215388-C-A
gnomAD v4:
17-43063371-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063371C>A , CM000679.2:g.43063371C>A | GRCh38 |
| NC_000017.10:g.41215388C>A , CM000679.1:g.41215388C>A | GRCh37 |
| NC_000017.9:g.38468914C>A | NCBI36 |
| NG_005905.2:g.154613G>T , LRG_292:g.154613G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5152G>T | ENSP00000417241.2:p.Val1718Leu | |
| ENST00000470026.6:c.5155G>T | ENSP00000419274.2:p.Val1719Leu | |
| ENST00000473961.6:c.5029G>T | ENSP00000420201.2:p.Val1677Leu | |
| ENST00000476777.6:c.5149G>T | ENSP00000417554.2:p.Val1717Leu | |
| ENST00000477152.6:c.5077G>T | ENSP00000419988.2:p.Val1693Leu | |
| ENST00000478531.6:c.1843G>T | ENSP00000420412.2:p.Val615Leu | |
| ENST00000489037.2:c.5077G>T | ENSP00000420781.2:p.Val1693Leu | |
| ENST00000493919.6:c.1705G>T | ENSP00000418819.2:p.Val569Leu | |
| ENST00000494123.6:c.5155G>T | ENSP00000419103.2:p.Val1719Leu | |
| ENST00000497488.2:c.4267G>T | ENSP00000418986.2:p.Val1423Leu | |
| ENST00000618469.2:c.5155G>T | ENSP00000478114.2:p.Val1719Leu | |
| ENST00000634433.2:c.5032G>T | ENSP00000489431.2:p.Val1678Leu | |
| ENST00000644379.2:c.5221G>T | ENSP00000496570.2:p.Val1741Leu | |
| ENST00000644555.2:c.1705G>T | ENSP00000494614.2:p.Val569Leu | |
| ENST00000652672.2:c.5014G>T | ENSP00000498906.2:p.Val1672Leu | |
| ENST00000484087.6:c.1717G>T | ENSP00000419481.2:p.Val573Leu | |
| ENST00000357654.9:c.5155G>T MANE Select | ENSP00000350283.3:p.Val1719Leu | |
| ENST00000471181.7:c.5218G>T | ENSP00000418960.2:p.Val1740Leu | |
| ENST00000644379.1:c.1542G>T | ||
| ENST00000352993.7:c.1729G>T | ENSP00000312236.5:p.Val577Leu | |
| ENST00000357654.7:c.5155G>T | ENSP00000350283.3:p.Val1719Leu | |
| ENST00000461221.5:c.*4938G>T | ENSP00000418548.1:n.*4938G>T | |
| ENST00000468300.5:c.1843G>T | ENSP00000417148.1:p.Val615Leu | |
| ENST00000471181.6:c.5218G>T | ENSP00000418960.2:p.Val1740Leu | |
| ENST00000478531.5:c.1843G>T | ENSP00000420412.1:p.Val615Leu | |
| ENST00000484087.5:c.1468G>T | ENSP00000419481.1:p.Val490Leu | |
| ENST00000491747.6:c.1843G>T | ENSP00000420705.2:p.Val615Leu | |
| ENST00000493795.5:c.5014G>T | ENSP00000418775.1:p.Val1672Leu | |
| ENST00000493919.5:c.1705G>T | ENSP00000418819.1:p.Val569Leu | |
| ENST00000586385.5:c.85G>T | ENSP00000465818.1:p.Val29Leu | |
| ENST00000591534.5:c.628G>T | ENSP00000467329.1:p.Val210Leu | |
| ENST00000591849.5:c.-98-13181G>T | ENSP00000465347.1:n.-98-13181G>T | |
| NM_007294.3:c.5155G>T , LRG_292t1:c.5155G>T | NP_009225.1:p.Val1719Leu | |
| NM_007297.3:c.5014G>T | NP_009228.2:p.Val1672Leu | |
| NM_007298.3:c.1843G>T | NP_009229.2:p.Val615Leu | |
| NM_007299.3:c.1843G>T | NP_009230.2:p.Val615Leu | |
| NM_007300.3:c.5218G>T | NP_009231.2:p.Val1740Leu | |
| NR_027676.1:n.5291G>T | ||
| NM_007294.4:c.5155G>T MANE Select | NP_009225.1:p.Val1719Leu | |
| NM_007297.4:c.5014G>T | NP_009228.2:p.Val1672Leu | |
| NM_007299.4:c.1843G>T | NP_009230.2:p.Val615Leu | |
| NM_007300.4:c.5218G>T | NP_009231.2:p.Val1740Leu | |
| NR_027676.2:n.5332G>T |