Linked Data
ClinVar Variation Id:
1319881
ClinVar RCV Id:
RCV001764198
dbSNP Id:
rs12928650
gnomAD v4:
16-13947899-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947899C>G , CM000678.2:g.13947899C>G | GRCh38 |
| NC_000016.9:g.14041756C>G , CM000678.1:g.14041756C>G | GRCh37 |
| NC_000016.8:g.13949257C>G | NCBI36 |
| NG_011442.1:g.32743C>G , LRG_463:g.32743C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2441C>G | ENSP00000507912.1:p.Ser814Cys | |
| ENST00000683962.1:c.*1997C>G | ENSP00000506854.1:n.*1997C>G | |
| ENST00000311895.8:c.2303C>G MANE Select | ENSP00000310520.7:p.Ser768Cys | |
| ENST00000311895.7:c.2303C>G | ENSP00000310520.7:p.Ser768Cys | |
| ENST00000389138.7:n.1580C>G | ||
| ENST00000462862.1:c.616C>G | ENSP00000461322.1:n.616C>G | |
| NM_005236.2:c.2303C>G , LRG_463t1:c.2303C>G | NP_005227.1:p.Ser768Cys | |
| XM_011522424.1:c.2441C>G | XP_011520726.1:p.Ser814Cys | |
| XM_011522425.1:c.1760C>G | XP_011520727.1:p.Ser587Cys | |
| XM_011522426.1:c.1514C>G | XP_011520728.1:p.Ser505Cys | |
| XM_011522427.1:c.953C>G | XP_011520729.1:p.Ser318Cys | |
| XR_932805.1:n.2462C>G | ||
| XM_011522424.3:c.2441C>G | XP_011520726.1:p.Ser814Cys | |
| XM_017023043.2:c.1514C>G | XP_016878532.1:p.Ser505Cys | |
| NM_005236.3:c.2303C>G MANE Select | NP_005227.1:p.Ser768Cys |