Linked Data
ClinVar Variation Id:
953866
ClinVar RCV Id:
RCV001226220
dbSNP Id:
rs772728961
gnomAD v2:
16-14041554-C-T
gnomAD v3:
16-13947697-C-T
gnomAD v4:
16-13947697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947697C>T , CM000678.2:g.13947697C>T | GRCh38 |
| NC_000016.9:g.14041554C>T , CM000678.1:g.14041554C>T | GRCh37 |
| NC_000016.8:g.13949055C>T | NCBI36 |
| NG_011442.1:g.32541C>T , LRG_463:g.32541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2239C>T | ENSP00000507912.1:p.Arg747Cys | |
| ENST00000683962.1:c.*1795C>T | ENSP00000506854.1:n.*1795C>T | |
| ENST00000311895.8:c.2101C>T MANE Select | ENSP00000310520.7:p.Arg701Cys | |
| ENST00000311895.7:c.2101C>T | ENSP00000310520.7:p.Arg701Cys | |
| ENST00000389138.7:n.1378C>T | ||
| ENST00000462862.1:c.414C>T | ENSP00000461322.1:n.414C>T | |
| NM_005236.2:c.2101C>T , LRG_463t1:c.2101C>T | NP_005227.1:p.Arg701Cys | |
| XM_011522424.1:c.2239C>T | XP_011520726.1:p.Arg747Cys | |
| XM_011522425.1:c.1558C>T | XP_011520727.1:p.Arg520Cys | |
| XM_011522426.1:c.1312C>T | XP_011520728.1:p.Arg438Cys | |
| XM_011522427.1:c.751C>T | XP_011520729.1:p.Arg251Cys | |
| XR_932805.1:n.2260C>T | ||
| XM_011522424.3:c.2239C>T | XP_011520726.1:p.Arg747Cys | |
| XM_017023043.2:c.1312C>T | XP_016878532.1:p.Arg438Cys | |
| NM_005236.3:c.2101C>T MANE Select | NP_005227.1:p.Arg701Cys |