Linked Data
ClinVar Variation Id:
55598
ClinVar RCV Id:
RCV002247446
dbSNP Id:
rs80357268
gnomAD v2:
17-41197790-C-T
gnomAD v4:
17-43045773-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045773C>T , CM000679.2:g.43045773C>T | GRCh38 |
| NC_000017.10:g.41197790C>T , CM000679.1:g.41197790C>T | GRCh37 |
| NC_000017.9:g.38451316C>T | NCBI36 |
| NG_005905.2:g.172211G>A , LRG_292:g.172211G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5494G>A | ENSP00000417241.2:p.Val1832Met | |
| ENST00000470026.6:c.5497G>A | ENSP00000419274.2:p.Val1833Met | |
| ENST00000473961.6:c.5371G>A | ENSP00000420201.2:p.Val1791Met | |
| ENST00000476777.6:c.5491G>A | ENSP00000417554.2:p.Val1831Met | |
| ENST00000477152.6:c.5419G>A | ENSP00000419988.2:p.Val1807Met | |
| ENST00000478531.6:c.2185G>A | ENSP00000420412.2:p.Val729Met | |
| ENST00000489037.2:c.5419G>A | ENSP00000420781.2:p.Val1807Met | |
| ENST00000493919.6:c.2047G>A | ENSP00000418819.2:p.Val683Met | |
| ENST00000494123.6:c.5497G>A | ENSP00000419103.2:p.Val1833Met | |
| ENST00000497488.2:c.4609G>A | ENSP00000418986.2:p.Val1537Met | |
| ENST00000618469.2:c.5497G>A | ENSP00000478114.2:p.Val1833Met | |
| ENST00000634433.2:c.5374G>A | ENSP00000489431.2:p.Val1792Met | |
| ENST00000644379.2:c.5563G>A | ENSP00000496570.2:p.Val1855Met | |
| ENST00000644555.2:c.2047G>A | ENSP00000494614.2:p.Val683Met | |
| ENST00000652672.2:c.5356G>A | ENSP00000498906.2:p.Val1786Met | |
| ENST00000484087.6:c.2059G>A | ENSP00000419481.2:p.Val687Met | |
| ENST00000700081.1:n.1380G>A | ||
| ENST00000700082.1:n.861G>A | ||
| ENST00000357654.9:c.5497G>A MANE Select | ENSP00000350283.3:p.Val1833Met | |
| ENST00000471181.7:c.5560G>A | ENSP00000418960.2:p.Val1854Met | |
| ENST00000644379.1:c.1884G>A | ||
| ENST00000352993.7:c.2071G>A | ENSP00000312236.5:p.Val691Met | |
| ENST00000357654.7:c.5497G>A | ENSP00000350283.3:p.Val1833Met | |
| ENST00000461221.5:c.*5280G>A | ENSP00000418548.1:n.*5280G>A | |
| ENST00000468300.5:c.*11G>A | ENSP00000417148.1:n.*11G>A | |
| ENST00000471181.6:c.5560G>A | ENSP00000418960.2:p.Val1854Met | |
| ENST00000491747.6:c.2185G>A | ENSP00000420705.2:p.Val729Met | |
| ENST00000493795.5:c.5356G>A | ENSP00000418775.1:p.Val1786Met | |
| ENST00000586385.5:c.427G>A | ENSP00000465818.1:p.Val143Met | |
| ENST00000591534.5:c.970G>A | ENSP00000467329.1:p.Val324Met | |
| ENST00000591849.5:c.196G>A | ENSP00000465347.1:p.Val66Met | |
| NM_007294.3:c.5497G>A , LRG_292t1:c.5497G>A | NP_009225.1:p.Val1833Met | |
| NM_007297.3:c.5356G>A | NP_009228.2:p.Val1786Met | |
| NM_007298.3:c.2185G>A | NP_009229.2:p.Val729Met | |
| NM_007299.3:c.*11G>A | NP_009230.2:n.*11G>A | |
| NM_007300.3:c.5560G>A | NP_009231.2:p.Val1854Met | |
| NR_027676.1:n.5633G>A | ||
| NM_007294.4:c.5497G>A MANE Select | NP_009225.1:p.Val1833Met | |
| NM_007297.4:c.5356G>A | NP_009228.2:p.Val1786Met | |
| NM_007299.4:c.*11G>A | NP_009230.2:n.*11G>A | |
| NM_007300.4:c.5560G>A | NP_009231.2:p.Val1854Met | |
| NR_027676.2:n.5674G>A |