Linked Data
ClinVar Variation Id:
185124
dbSNP Id:
rs786201945
gnomAD v2:
17-41201148-G-A
gnomAD v4:
17-43049131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049131G>A , CM000679.2:g.43049131G>A | GRCh38 |
| NC_000017.10:g.41201148G>A , CM000679.1:g.41201148G>A | GRCh37 |
| NC_000017.9:g.38454674G>A | NCBI36 |
| NG_005905.2:g.168853C>T , LRG_292:g.168853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5393C>T | ENSP00000417241.2:p.Thr1798Ile | |
| ENST00000470026.6:c.5396C>T | ENSP00000419274.2:p.Thr1799Ile | |
| ENST00000473961.6:c.5270C>T | ENSP00000420201.2:p.Thr1757Ile | |
| ENST00000476777.6:c.5390C>T | ENSP00000417554.2:p.Thr1797Ile | |
| ENST00000477152.6:c.5318C>T | ENSP00000419988.2:p.Thr1773Ile | |
| ENST00000478531.6:c.2084C>T | ENSP00000420412.2:p.Thr695Ile | |
| ENST00000489037.2:c.5318C>T | ENSP00000420781.2:p.Thr1773Ile | |
| ENST00000493919.6:c.1946C>T | ENSP00000418819.2:p.Thr649Ile | |
| ENST00000494123.6:c.5396C>T | ENSP00000419103.2:p.Thr1799Ile | |
| ENST00000497488.2:c.4508C>T | ENSP00000418986.2:p.Thr1503Ile | |
| ENST00000618469.2:c.5396C>T | ENSP00000478114.2:p.Thr1799Ile | |
| ENST00000634433.2:c.5273C>T | ENSP00000489431.2:p.Thr1758Ile | |
| ENST00000644379.2:c.5462C>T | ENSP00000496570.2:p.Thr1821Ile | |
| ENST00000644555.2:c.1946C>T | ENSP00000494614.2:p.Thr649Ile | |
| ENST00000652672.2:c.5255C>T | ENSP00000498906.2:p.Thr1752Ile | |
| ENST00000484087.6:c.1958C>T | ENSP00000419481.2:p.Thr653Ile | |
| ENST00000700081.1:n.1279C>T | ||
| ENST00000357654.9:c.5396C>T MANE Select | ENSP00000350283.3:p.Thr1799Ile | |
| ENST00000471181.7:c.5459C>T | ENSP00000418960.2:p.Thr1820Ile | |
| ENST00000644379.1:c.1783C>T | ||
| ENST00000352993.7:c.1970C>T | ENSP00000312236.5:p.Thr657Ile | |
| ENST00000357654.7:c.5396C>T | ENSP00000350283.3:p.Thr1799Ile | |
| ENST00000461221.5:c.*5179C>T | ENSP00000418548.1:n.*5179C>T | |
| ENST00000468300.5:c.2021-1428C>T | ENSP00000417148.1:n.2021-1428C>T | |
| ENST00000471181.6:c.5459C>T | ENSP00000418960.2:p.Thr1820Ile | |
| ENST00000491747.6:c.2084C>T | ENSP00000420705.2:p.Thr695Ile | |
| ENST00000493795.5:c.5255C>T | ENSP00000418775.1:p.Thr1752Ile | |
| ENST00000586385.5:c.326C>T | ENSP00000465818.1:p.Thr109Ile | |
| ENST00000591534.5:c.869C>T | ENSP00000467329.1:p.Thr290Ile | |
| ENST00000591849.5:c.95C>T | ENSP00000465347.1:p.Thr32Ile | |
| NM_007294.3:c.5396C>T , LRG_292t1:c.5396C>T | NP_009225.1:p.Thr1799Ile | |
| NM_007297.3:c.5255C>T | NP_009228.2:p.Thr1752Ile | |
| NM_007298.3:c.2084C>T | NP_009229.2:p.Thr695Ile | |
| NM_007299.3:c.2021-1428C>T | NP_009230.2:n.2021-1428C>T | |
| NM_007300.3:c.5459C>T | NP_009231.2:p.Thr1820Ile | |
| NR_027676.1:n.5532C>T | ||
| NM_007294.4:c.5396C>T MANE Select | NP_009225.1:p.Thr1799Ile | |
| NM_007297.4:c.5255C>T | NP_009228.2:p.Thr1752Ile | |
| NM_007299.4:c.2021-1428C>T | NP_009230.2:n.2021-1428C>T | |
| NM_007300.4:c.5459C>T | NP_009231.2:p.Thr1820Ile | |
| NR_027676.2:n.5573C>T |