Linked Data
ClinVar Variation Id:
941684
dbSNP Id:
rs374978891
ExAC:
16:14041701 C / T
gnomAD v2:
16-14041701-C-T
gnomAD v3:
16-13947844-C-T
gnomAD v4:
16-13947844-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947844C>T , CM000678.2:g.13947844C>T | GRCh38 |
| NC_000016.9:g.14041701C>T , CM000678.1:g.14041701C>T | GRCh37 |
| NC_000016.8:g.13949202C>T | NCBI36 |
| NG_011442.1:g.32688C>T , LRG_463:g.32688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2386C>T | ENSP00000507912.1:p.Arg796Cys | |
| ENST00000683962.1:c.*1942C>T | ENSP00000506854.1:n.*1942C>T | |
| ENST00000311895.8:c.2248C>T MANE Select | ENSP00000310520.7:p.Arg750Cys | |
| ENST00000311895.7:c.2248C>T | ENSP00000310520.7:p.Arg750Cys | |
| ENST00000389138.7:n.1525C>T | ||
| ENST00000462862.1:c.561C>T | ENSP00000461322.1:n.561C>T | |
| NM_005236.2:c.2248C>T , LRG_463t1:c.2248C>T | NP_005227.1:p.Arg750Cys | |
| XM_011522424.1:c.2386C>T | XP_011520726.1:p.Arg796Cys | |
| XM_011522425.1:c.1705C>T | XP_011520727.1:p.Arg569Cys | |
| XM_011522426.1:c.1459C>T | XP_011520728.1:p.Arg487Cys | |
| XM_011522427.1:c.898C>T | XP_011520729.1:p.Arg300Cys | |
| XR_932805.1:n.2407C>T | ||
| XM_011522424.3:c.2386C>T | XP_011520726.1:p.Arg796Cys | |
| XM_017023043.2:c.1459C>T | XP_016878532.1:p.Arg487Cys | |
| NM_005236.3:c.2248C>T MANE Select | NP_005227.1:p.Arg750Cys |