Linked Data
dbSNP Id:
rs779096061
ExAC:
16:14041609 C / T
gnomAD v2:
16-14041609-C-T
gnomAD v4:
16-13947752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947752C>T , CM000678.2:g.13947752C>T | GRCh38 |
| NC_000016.9:g.14041609C>T , CM000678.1:g.14041609C>T | GRCh37 |
| NC_000016.8:g.13949110C>T | NCBI36 |
| NG_011442.1:g.32596C>T , LRG_463:g.32596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2294C>T | ENSP00000507912.1:p.Thr765Ile | |
| ENST00000683962.1:c.*1850C>T | ENSP00000506854.1:n.*1850C>T | |
| ENST00000311895.8:c.2156C>T MANE Select | ENSP00000310520.7:p.Thr719Ile | |
| ENST00000311895.7:c.2156C>T | ENSP00000310520.7:p.Thr719Ile | |
| ENST00000389138.7:n.1433C>T | ||
| ENST00000462862.1:c.469C>T | ENSP00000461322.1:n.469C>T | |
| NM_005236.2:c.2156C>T , LRG_463t1:c.2156C>T | NP_005227.1:p.Thr719Ile | |
| XM_011522424.1:c.2294C>T | XP_011520726.1:p.Thr765Ile | |
| XM_011522425.1:c.1613C>T | XP_011520727.1:p.Thr538Ile | |
| XM_011522426.1:c.1367C>T | XP_011520728.1:p.Thr456Ile | |
| XM_011522427.1:c.806C>T | XP_011520729.1:p.Thr269Ile | |
| XR_932805.1:n.2315C>T | ||
| XM_011522424.3:c.2294C>T | XP_011520726.1:p.Thr765Ile | |
| XM_017023043.2:c.1367C>T | XP_016878532.1:p.Thr456Ile | |
| NM_005236.3:c.2156C>T MANE Select | NP_005227.1:p.Thr719Ile |