Linked Data
ClinVar Variation Id:
182171
dbSNP Id:
rs730881500
ExAC:
17:41197786 G / A
gnomAD v2:
17-41197786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045769G>A , CM000679.2:g.43045769G>A | GRCh38 |
| NC_000017.10:g.41197786G>A , CM000679.1:g.41197786G>A | GRCh37 |
| NC_000017.9:g.38451312G>A | NCBI36 |
| NG_005905.2:g.172215C>T , LRG_292:g.172215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5498C>T | ENSP00000417241.2:p.Thr1833Ile | |
| ENST00000470026.6:c.5501C>T | ENSP00000419274.2:p.Thr1834Ile | |
| ENST00000473961.6:c.5375C>T | ENSP00000420201.2:p.Thr1792Ile | |
| ENST00000476777.6:c.5495C>T | ENSP00000417554.2:p.Thr1832Ile | |
| ENST00000477152.6:c.5423C>T | ENSP00000419988.2:p.Thr1808Ile | |
| ENST00000478531.6:c.2189C>T | ENSP00000420412.2:p.Thr730Ile | |
| ENST00000489037.2:c.5423C>T | ENSP00000420781.2:p.Thr1808Ile | |
| ENST00000493919.6:c.2051C>T | ENSP00000418819.2:p.Thr684Ile | |
| ENST00000494123.6:c.5501C>T | ENSP00000419103.2:p.Thr1834Ile | |
| ENST00000497488.2:c.4613C>T | ENSP00000418986.2:p.Thr1538Ile | |
| ENST00000618469.2:c.5501C>T | ENSP00000478114.2:p.Thr1834Ile | |
| ENST00000634433.2:c.5378C>T | ENSP00000489431.2:p.Thr1793Ile | |
| ENST00000644379.2:c.5567C>T | ENSP00000496570.2:p.Thr1856Ile | |
| ENST00000644555.2:c.2051C>T | ENSP00000494614.2:p.Thr684Ile | |
| ENST00000652672.2:c.5360C>T | ENSP00000498906.2:p.Thr1787Ile | |
| ENST00000484087.6:c.2063C>T | ENSP00000419481.2:p.Thr688Ile | |
| ENST00000700081.1:n.1384C>T | ||
| ENST00000700082.1:n.865C>T | ||
| ENST00000357654.9:c.5501C>T MANE Select | ENSP00000350283.3:p.Thr1834Ile | |
| ENST00000471181.7:c.5564C>T | ENSP00000418960.2:p.Thr1855Ile | |
| ENST00000644379.1:c.1888C>T | ||
| ENST00000352993.7:c.2075C>T | ENSP00000312236.5:p.Thr692Ile | |
| ENST00000357654.7:c.5501C>T | ENSP00000350283.3:p.Thr1834Ile | |
| ENST00000461221.5:c.*5284C>T | ENSP00000418548.1:n.*5284C>T | |
| ENST00000468300.5:c.*15C>T | ENSP00000417148.1:n.*15C>T | |
| ENST00000471181.6:c.5564C>T | ENSP00000418960.2:p.Thr1855Ile | |
| ENST00000491747.6:c.2189C>T | ENSP00000420705.2:p.Thr730Ile | |
| ENST00000493795.5:c.5360C>T | ENSP00000418775.1:p.Thr1787Ile | |
| ENST00000586385.5:c.431C>T | ENSP00000465818.1:p.Thr144Ile | |
| ENST00000591534.5:c.974C>T | ENSP00000467329.1:p.Thr325Ile | |
| ENST00000591849.5:c.200C>T | ENSP00000465347.1:p.Thr67Ile | |
| NM_007294.3:c.5501C>T , LRG_292t1:c.5501C>T | NP_009225.1:p.Thr1834Ile | |
| NM_007297.3:c.5360C>T | NP_009228.2:p.Thr1787Ile | |
| NM_007298.3:c.2189C>T | NP_009229.2:p.Thr730Ile | |
| NM_007299.3:c.*15C>T | NP_009230.2:n.*15C>T | |
| NM_007300.3:c.5564C>T | NP_009231.2:p.Thr1855Ile | |
| NR_027676.1:n.5637C>T | ||
| NM_007294.4:c.5501C>T MANE Select | NP_009225.1:p.Thr1834Ile | |
| NM_007297.4:c.5360C>T | NP_009228.2:p.Thr1787Ile | |
| NM_007299.4:c.*15C>T | NP_009230.2:n.*15C>T | |
| NM_007300.4:c.5564C>T | NP_009231.2:p.Thr1855Ile | |
| NR_027676.2:n.5678C>T |