Linked Data
ClinVar Variation Id:
55824
dbSNP Id:
rs149364215
ExAC:
16:14041518 C / A
gnomAD v2:
16-14041518-C-A
gnomAD v4:
16-13947661-C-A
PubMed:
PMID:23623386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947661C>A , CM000678.2:g.13947661C>A | GRCh38 |
| NC_000016.9:g.14041518C>A , CM000678.1:g.14041518C>A | GRCh37 |
| NC_000016.8:g.13949019C>A | NCBI36 |
| NG_011442.1:g.32505C>A , LRG_463:g.32505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2203C>A | ENSP00000507912.1:p.Arg735Ser | |
| ENST00000683962.1:c.*1759C>A | ENSP00000506854.1:n.*1759C>A | |
| ENST00000311895.8:c.2065C>A MANE Select | ENSP00000310520.7:p.Arg689Ser | |
| ENST00000311895.7:c.2065C>A | ENSP00000310520.7:p.Arg689Ser | |
| ENST00000389138.7:n.1342C>A | ||
| ENST00000462862.1:c.378C>A | ENSP00000461322.1:n.378C>A | |
| NM_005236.2:c.2065C>A , LRG_463t1:c.2065C>A | NP_005227.1:p.Arg689Ser | |
| XM_011522424.1:c.2203C>A | XP_011520726.1:p.Arg735Ser | |
| XM_011522425.1:c.1522C>A | XP_011520727.1:p.Arg508Ser | |
| XM_011522426.1:c.1276C>A | XP_011520728.1:p.Arg426Ser | |
| XM_011522427.1:c.715C>A | XP_011520729.1:p.Arg239Ser | |
| XR_932805.1:n.2224C>A | ||
| XM_011522424.3:c.2203C>A | XP_011520726.1:p.Arg735Ser | |
| XM_017023043.2:c.1276C>A | XP_016878532.1:p.Arg426Ser | |
| NM_005236.3:c.2065C>A MANE Select | NP_005227.1:p.Arg689Ser |