Linked Data
ClinVar Variation Id:
409339
dbSNP Id:
rs770193975
ExAC:
17:41223037 C / T
gnomAD v2:
17-41223037-C-T
gnomAD v3:
17-43071020-C-T
gnomAD v4:
17-43071020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071020C>T , CM000679.2:g.43071020C>T | GRCh38 |
| NC_000017.10:g.41223037C>T , CM000679.1:g.41223037C>T | GRCh37 |
| NC_000017.9:g.38476563C>T | NCBI36 |
| NG_005905.2:g.146964G>A , LRG_292:g.146964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4891G>A | ENSP00000417241.2:p.Val1631Met | |
| ENST00000470026.6:c.4894G>A | ENSP00000419274.2:p.Val1632Met | |
| ENST00000473961.6:c.4768G>A | ENSP00000420201.2:p.Val1590Met | |
| ENST00000476777.6:c.4888G>A | ENSP00000417554.2:p.Val1630Met | |
| ENST00000477152.6:c.4816G>A | ENSP00000419988.2:p.Val1606Met | |
| ENST00000478531.6:c.1582G>A | ENSP00000420412.2:p.Val528Met | |
| ENST00000489037.2:c.4816G>A | ENSP00000420781.2:p.Val1606Met | |
| ENST00000493919.6:c.1444G>A | ENSP00000418819.2:p.Val482Met | |
| ENST00000494123.6:c.4894G>A | ENSP00000419103.2:p.Val1632Met | |
| ENST00000497488.2:c.4006G>A | ENSP00000418986.2:p.Val1336Met | |
| ENST00000618469.2:c.4894G>A | ENSP00000478114.2:p.Val1632Met | |
| ENST00000634433.2:c.4771G>A | ENSP00000489431.2:p.Val1591Met | |
| ENST00000644379.2:c.4960G>A | ENSP00000496570.2:p.Val1654Met | |
| ENST00000644555.2:c.1444G>A | ENSP00000494614.2:p.Val482Met | |
| ENST00000652672.2:c.4753G>A | ENSP00000498906.2:p.Val1585Met | |
| ENST00000484087.6:c.1456G>A | ENSP00000419481.2:p.Val486Met | |
| ENST00000700182.1:c.1501G>A | ENSP00000514849.1:p.Val501Met | |
| ENST00000357654.9:c.4894G>A MANE Select | ENSP00000350283.3:p.Val1632Met | |
| ENST00000471181.7:c.4957G>A | ENSP00000418960.2:p.Val1653Met | |
| ENST00000644379.1:c.1281G>A | ||
| ENST00000352993.7:c.1468G>A | ENSP00000312236.5:p.Val490Met | |
| ENST00000357654.7:c.4894G>A | ENSP00000350283.3:p.Val1632Met | |
| ENST00000461221.5:c.*4677G>A | ENSP00000418548.1:n.*4677G>A | |
| ENST00000468300.5:c.1582G>A | ENSP00000417148.1:p.Val528Met | |
| ENST00000471181.6:c.4957G>A | ENSP00000418960.2:p.Val1653Met | |
| ENST00000472490.1:n.47G>A | ||
| ENST00000478531.5:c.1582G>A | ENSP00000420412.1:p.Val528Met | |
| ENST00000484087.5:c.1207G>A | ENSP00000419481.1:p.Val403Met | |
| ENST00000491747.6:c.1582G>A | ENSP00000420705.2:p.Val528Met | |
| ENST00000493795.5:c.4753G>A | ENSP00000418775.1:p.Val1585Met | |
| ENST00000493919.5:c.1444G>A | ENSP00000418819.1:p.Val482Met | |
| ENST00000586385.5:c.5-7069G>A | ENSP00000465818.1:n.5-7069G>A | |
| ENST00000591534.5:c.367G>A | ENSP00000467329.1:p.Val123Met | |
| ENST00000591849.5:c.-98-20830G>A | ENSP00000465347.1:n.-98-20830G>A | |
| NM_007294.3:c.4894G>A , LRG_292t1:c.4894G>A | NP_009225.1:p.Val1632Met | |
| NM_007297.3:c.4753G>A | NP_009228.2:p.Val1585Met | |
| NM_007298.3:c.1582G>A | NP_009229.2:p.Val528Met | |
| NM_007299.3:c.1582G>A | NP_009230.2:p.Val528Met | |
| NM_007300.3:c.4957G>A | NP_009231.2:p.Val1653Met | |
| NR_027676.1:n.5030G>A | ||
| NM_007294.4:c.4894G>A MANE Select | NP_009225.1:p.Val1632Met | |
| NM_007297.4:c.4753G>A | NP_009228.2:p.Val1585Met | |
| NM_007299.4:c.1582G>A | NP_009230.2:p.Val528Met | |
| NM_007300.4:c.4957G>A | NP_009231.2:p.Val1653Met | |
| NR_027676.2:n.5071G>A |