Linked Data
ClinVar Variation Id:
55827
dbSNP Id:
rs397509403
gnomAD v3:
16-13928149-T-C
gnomAD v4:
16-13928149-T-C
PubMed:
PMID:23623389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13928149T>C , CM000678.2:g.13928149T>C | GRCh38 |
| NC_000016.9:g.14022006T>C , CM000678.1:g.14022006T>C | GRCh37 |
| NC_000016.8:g.13929507T>C | NCBI36 |
| NG_011442.1:g.12993T>C , LRG_463:g.12993T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.694T>C | ||
| ENST00000682568.1:n.636T>C | ||
| ENST00000682617.1:c.844T>C | ENSP00000507912.1:p.Cys282Arg | |
| ENST00000682826.1:c.706T>C | ENSP00000507274.1:p.Cys236Arg | |
| ENST00000682909.1:n.2746T>C | ||
| ENST00000683277.1:n.2351T>C | ||
| ENST00000683407.1:n.714T>C | ||
| ENST00000683962.1:c.*400T>C | ENSP00000506854.1:n.*400T>C | |
| ENST00000311895.8:c.706T>C MANE Select | ENSP00000310520.7:p.Cys236Arg | |
| ENST00000311895.7:c.706T>C | ENSP00000310520.7:p.Cys236Arg | |
| ENST00000574194.1:c.233T>C | ||
| ENST00000574781.1:n.383T>C | ||
| ENST00000575156.5:c.706T>C | ENSP00000459933.1:p.Cys236Arg | |
| NM_005236.2:c.706T>C , LRG_463t1:c.706T>C | NP_005227.1:p.Cys236Arg | |
| XM_011522424.1:c.844T>C | XP_011520726.1:p.Cys282Arg | |
| XM_011522425.1:c.163T>C | XP_011520727.1:p.Cys55Arg | |
| XR_932805.1:n.865T>C | ||
| XM_011522424.3:c.844T>C | XP_011520726.1:p.Cys282Arg | |
| XM_017023043.2:c.-232T>C | XP_016878532.1:n.-232T>C | |
| NM_005236.3:c.706T>C MANE Select | NP_005227.1:p.Cys236Arg |