Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170596C>T , CM000677.2:g.40170596C>T | GRCh38 |
| NC_000015.9:g.40462797C>T , CM000677.1:g.40462797C>T | GRCh37 |
| NC_000015.8:g.38250089C>T | NCBI36 |
| NG_016338.1:g.14588C>T , LRG_489:g.14588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.299C>T MANE Select | ENSP00000287598.7:p.Thr100Met | |
| ENST00000287598.10:c.299C>T | ENSP00000287598.6:p.Thr100Met | |
| ENST00000412359.7:c.341C>T | ENSP00000398470.3:p.Thr114Met | |
| ENST00000558715.5:c.*132C>T | ENSP00000453861.1:n.*132C>T | |
| ENST00000559414.5:n.452+25C>T | ||
| ENST00000560120.5:n.353C>T | ||
| NM_001211.5:c.299C>T , LRG_489t1:c.299C>T | NP_001202.4:p.Thr100Met | |
| NM_001211.6:c.299C>T MANE Select | NP_001202.5:p.Thr100Met |