Linked Data
ClinVar Variation Id:
1692882
ClinVar RCV Id:
RCV002259277
dbSNP Id:
rs746784825
ExAC:
16:14041531 G / T
gnomAD v2:
16-14041531-G-T
gnomAD v4:
16-13947674-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947674G>T , CM000678.2:g.13947674G>T | GRCh38 |
| NC_000016.9:g.14041531G>T , CM000678.1:g.14041531G>T | GRCh37 |
| NC_000016.8:g.13949032G>T | NCBI36 |
| NG_011442.1:g.32518G>T , LRG_463:g.32518G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2216G>T | ENSP00000507912.1:p.Ser739Ile | |
| ENST00000683962.1:c.*1772G>T | ENSP00000506854.1:n.*1772G>T | |
| ENST00000311895.8:c.2078G>T MANE Select | ENSP00000310520.7:p.Ser693Ile | |
| ENST00000311895.7:c.2078G>T | ENSP00000310520.7:p.Ser693Ile | |
| ENST00000389138.7:n.1355G>T | ||
| ENST00000462862.1:c.391G>T | ENSP00000461322.1:n.391G>T | |
| NM_005236.2:c.2078G>T , LRG_463t1:c.2078G>T | NP_005227.1:p.Ser693Ile | |
| XM_011522424.1:c.2216G>T | XP_011520726.1:p.Ser739Ile | |
| XM_011522425.1:c.1535G>T | XP_011520727.1:p.Ser512Ile | |
| XM_011522426.1:c.1289G>T | XP_011520728.1:p.Ser430Ile | |
| XM_011522427.1:c.728G>T | XP_011520729.1:p.Ser243Ile | |
| XR_932805.1:n.2237G>T | ||
| XM_011522424.3:c.2216G>T | XP_011520726.1:p.Ser739Ile | |
| XM_017023043.2:c.1289G>T | XP_016878532.1:p.Ser430Ile | |
| NM_005236.3:c.2078G>T MANE Select | NP_005227.1:p.Ser693Ile |