Linked Data
ClinVar Variation Id:
55283
dbSNP Id:
rs80357002
ExAC:
17:41223166 G / A
gnomAD v2:
17-41223166-G-A
gnomAD v4:
17-43071149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071149G>A , CM000679.2:g.43071149G>A | GRCh38 |
| NC_000017.10:g.41223166G>A , CM000679.1:g.41223166G>A | GRCh37 |
| NC_000017.9:g.38476692G>A | NCBI36 |
| NG_005905.2:g.146835C>T , LRG_292:g.146835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4762C>T | ENSP00000417241.2:p.Arg1588Cys | |
| ENST00000470026.6:c.4765C>T | ENSP00000419274.2:p.Arg1589Cys | |
| ENST00000473961.6:c.4639C>T | ENSP00000420201.2:p.Arg1547Cys | |
| ENST00000476777.6:c.4759C>T | ENSP00000417554.2:p.Arg1587Cys | |
| ENST00000477152.6:c.4687C>T | ENSP00000419988.2:p.Arg1563Cys | |
| ENST00000478531.6:c.1453C>T | ENSP00000420412.2:p.Arg485Cys | |
| ENST00000489037.2:c.4687C>T | ENSP00000420781.2:p.Arg1563Cys | |
| ENST00000493919.6:c.1315C>T | ENSP00000418819.2:p.Arg439Cys | |
| ENST00000494123.6:c.4765C>T | ENSP00000419103.2:p.Arg1589Cys | |
| ENST00000497488.2:c.3877C>T | ENSP00000418986.2:p.Arg1293Cys | |
| ENST00000618469.2:c.4765C>T | ENSP00000478114.2:p.Arg1589Cys | |
| ENST00000634433.2:c.4642C>T | ENSP00000489431.2:p.Arg1548Cys | |
| ENST00000644379.2:c.4831C>T | ENSP00000496570.2:p.Arg1611Cys | |
| ENST00000644555.2:c.1315C>T | ENSP00000494614.2:p.Arg439Cys | |
| ENST00000652672.2:c.4624C>T | ENSP00000498906.2:p.Arg1542Cys | |
| ENST00000484087.6:c.1327C>T | ENSP00000419481.2:p.Arg443Cys | |
| ENST00000700182.1:c.1372C>T | ENSP00000514849.1:p.Arg458Cys | |
| ENST00000357654.9:c.4765C>T MANE Select | ENSP00000350283.3:p.Arg1589Cys | |
| ENST00000471181.7:c.4828C>T | ENSP00000418960.2:p.Arg1610Cys | |
| ENST00000644379.1:c.1152C>T | ||
| ENST00000352993.7:c.1339C>T | ENSP00000312236.5:p.Arg447Cys | |
| ENST00000357654.7:c.4765C>T | ENSP00000350283.3:p.Arg1589Cys | |
| ENST00000461221.5:c.*4548C>T | ENSP00000418548.1:n.*4548C>T | |
| ENST00000468300.5:c.1453C>T | ENSP00000417148.1:p.Arg485Cys | |
| ENST00000471181.6:c.4828C>T | ENSP00000418960.2:p.Arg1610Cys | |
| ENST00000478531.5:c.1453C>T | ENSP00000420412.1:p.Arg485Cys | |
| ENST00000484087.5:c.1078C>T | ENSP00000419481.1:p.Arg360Cys | |
| ENST00000491747.6:c.1453C>T | ENSP00000420705.2:p.Arg485Cys | |
| ENST00000493795.5:c.4624C>T | ENSP00000418775.1:p.Arg1542Cys | |
| ENST00000493919.5:c.1315C>T | ENSP00000418819.1:p.Arg439Cys | |
| ENST00000586385.5:c.5-7198C>T | ENSP00000465818.1:n.5-7198C>T | |
| ENST00000591534.5:c.238C>T | ENSP00000467329.1:p.Arg80Cys | |
| ENST00000591849.5:c.-98-20959C>T | ENSP00000465347.1:n.-98-20959C>T | |
| NM_007294.3:c.4765C>T , LRG_292t1:c.4765C>T | NP_009225.1:p.Arg1589Cys | |
| NM_007297.3:c.4624C>T | NP_009228.2:p.Arg1542Cys | |
| NM_007298.3:c.1453C>T | NP_009229.2:p.Arg485Cys | |
| NM_007299.3:c.1453C>T | NP_009230.2:p.Arg485Cys | |
| NM_007300.3:c.4828C>T | NP_009231.2:p.Arg1610Cys | |
| NR_027676.1:n.4901C>T | ||
| NM_007294.4:c.4765C>T MANE Select | NP_009225.1:p.Arg1589Cys | |
| NM_007297.4:c.4624C>T | NP_009228.2:p.Arg1542Cys | |
| NM_007299.4:c.1453C>T | NP_009230.2:p.Arg485Cys | |
| NM_007300.4:c.4828C>T | NP_009231.2:p.Arg1610Cys | |
| NR_027676.2:n.4942C>T |