Linked Data
dbSNP Id:
rs914124269
gnomAD v2:
12-116420283-G-A
gnomAD v3:
12-115982478-G-A
gnomAD v4:
12-115982478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982478G>A , CM000674.2:g.115982478G>A | GRCh38 |
| NC_000012.11:g.116420283G>A , CM000674.1:g.116420283G>A | GRCh37 |
| NC_000012.10:g.114904666G>A | NCBI36 |
| NG_023366.1:g.299709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5081C>T MANE Select | ENSP00000281928.3:p.Thr1694Ile | |
| ENST00000549786.2:c.4509C>T | ||
| ENST00000648379.1:n.3449C>T | ||
| ENST00000648737.1:n.4845C>T | ||
| ENST00000648825.1:n.1821C>T | ||
| ENST00000648916.1:n.3092C>T | ||
| ENST00000649146.1:n.2324C>T | ||
| ENST00000649607.1:c.3265C>T | ||
| ENST00000649775.1:c.1570C>T | ||
| ENST00000650226.1:c.5081C>T | ENSP00000496981.1:p.Thr1694Ile | |
| ENST00000281928.7:c.5081C>T | ENSP00000281928.3:p.Thr1694Ile | |
| ENST00000549786.1:c.445C>T | ||
| ENST00000552340.1:c.113C>T | ENSP00000449876.1:p.Thr38Ile | |
| NM_015335.4:c.5081C>T | NP_056150.1:p.Thr1694Ile | |
| XM_011538080.1:c.5081C>T | XP_011536382.1:p.Thr1694Ile | |
| XM_011538081.1:c.5078C>T | XP_011536383.1:p.Thr1693Ile | |
| XM_011538082.1:c.5051C>T | XP_011536384.1:p.Thr1684Ile | |
| XM_011538080.2:c.5081C>T | XP_011536382.1:p.Thr1694Ile | |
| XM_011538081.2:c.5078C>T | XP_011536383.1:p.Thr1693Ile | |
| XM_011538082.2:c.5051C>T | XP_011536384.1:p.Thr1684Ile | |
| XM_017019090.1:c.5078C>T | XP_016874579.1:p.Thr1693Ile | |
| NM_015335.5:c.5081C>T MANE Select | NP_056150.1:p.Thr1694Ile |