Linked Data
ClinVar Variation Id:
182173
dbSNP Id:
rs730881501
gnomAD v3:
17-43045758-C-T
gnomAD v4:
17-43045758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045758C>T , CM000679.2:g.43045758C>T | GRCh38 |
| NC_000017.10:g.41197775C>T , CM000679.1:g.41197775C>T | GRCh37 |
| NC_000017.9:g.38451301C>T | NCBI36 |
| NG_005905.2:g.172226G>A , LRG_292:g.172226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5509G>A | ENSP00000417241.2:p.Val1837Met | |
| ENST00000470026.6:c.5512G>A | ENSP00000419274.2:p.Val1838Met | |
| ENST00000473961.6:c.5386G>A | ENSP00000420201.2:p.Val1796Met | |
| ENST00000476777.6:c.5506G>A | ENSP00000417554.2:p.Val1836Met | |
| ENST00000477152.6:c.5434G>A | ENSP00000419988.2:p.Val1812Met | |
| ENST00000478531.6:c.2200G>A | ENSP00000420412.2:p.Val734Met | |
| ENST00000489037.2:c.5434G>A | ENSP00000420781.2:p.Val1812Met | |
| ENST00000493919.6:c.2062G>A | ENSP00000418819.2:p.Val688Met | |
| ENST00000494123.6:c.5512G>A | ENSP00000419103.2:p.Val1838Met | |
| ENST00000497488.2:c.4624G>A | ENSP00000418986.2:p.Val1542Met | |
| ENST00000618469.2:c.5512G>A | ENSP00000478114.2:p.Val1838Met | |
| ENST00000634433.2:c.5389G>A | ENSP00000489431.2:p.Val1797Met | |
| ENST00000644379.2:c.5578G>A | ENSP00000496570.2:p.Val1860Met | |
| ENST00000644555.2:c.2062G>A | ENSP00000494614.2:p.Val688Met | |
| ENST00000652672.2:c.5371G>A | ENSP00000498906.2:p.Val1791Met | |
| ENST00000484087.6:c.2074G>A | ENSP00000419481.2:p.Val692Met | |
| ENST00000700081.1:n.1395G>A | ||
| ENST00000700082.1:n.876G>A | ||
| ENST00000357654.9:c.5512G>A MANE Select | ENSP00000350283.3:p.Val1838Met | |
| ENST00000471181.7:c.5575G>A | ENSP00000418960.2:p.Val1859Met | |
| ENST00000644379.1:c.1899G>A | ||
| ENST00000352993.7:c.2086G>A | ENSP00000312236.5:p.Val696Met | |
| ENST00000357654.7:c.5512G>A | ENSP00000350283.3:p.Val1838Met | |
| ENST00000461221.5:c.*5295G>A | ENSP00000418548.1:n.*5295G>A | |
| ENST00000468300.5:c.*26G>A | ENSP00000417148.1:n.*26G>A | |
| ENST00000471181.6:c.5575G>A | ENSP00000418960.2:p.Val1859Met | |
| ENST00000491747.6:c.2200G>A | ENSP00000420705.2:p.Val734Met | |
| ENST00000493795.5:c.5371G>A | ENSP00000418775.1:p.Val1791Met | |
| ENST00000586385.5:c.442G>A | ENSP00000465818.1:p.Val148Met | |
| ENST00000591534.5:c.985G>A | ENSP00000467329.1:p.Val329Met | |
| ENST00000591849.5:c.211G>A | ENSP00000465347.1:p.Val71Met | |
| NM_007294.3:c.5512G>A , LRG_292t1:c.5512G>A | NP_009225.1:p.Val1838Met | |
| NM_007297.3:c.5371G>A | NP_009228.2:p.Val1791Met | |
| NM_007298.3:c.2200G>A | NP_009229.2:p.Val734Met | |
| NM_007299.3:c.*26G>A | NP_009230.2:n.*26G>A | |
| NM_007300.3:c.5575G>A | NP_009231.2:p.Val1859Met | |
| NR_027676.1:n.5648G>A | ||
| NM_007294.4:c.5512G>A MANE Select | NP_009225.1:p.Val1838Met | |
| NM_007297.4:c.5371G>A | NP_009228.2:p.Val1791Met | |
| NM_007299.4:c.*26G>A | NP_009230.2:n.*26G>A | |
| NM_007300.4:c.5575G>A | NP_009231.2:p.Val1859Met | |
| NR_027676.2:n.5689G>A |