Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170590T>A , CM000677.2:g.40170590T>A | GRCh38 |
| NC_000015.9:g.40462791T>A , CM000677.1:g.40462791T>A | GRCh37 |
| NC_000015.8:g.38250083T>A | NCBI36 |
| NG_016338.1:g.14582T>A , LRG_489:g.14582T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.293T>A MANE Select | ENSP00000287598.7:p.Met98Lys | |
| ENST00000287598.10:c.293T>A | ENSP00000287598.6:p.Met98Lys | |
| ENST00000412359.7:c.335T>A | ENSP00000398470.3:p.Met112Lys | |
| ENST00000558715.5:c.*126T>A | ENSP00000453861.1:n.*126T>A | |
| ENST00000559414.5:n.452+19T>A | ||
| ENST00000560120.5:n.347T>A | ||
| NM_001211.5:c.293T>A , LRG_489t1:c.293T>A | NP_001202.4:p.Met98Lys | |
| NM_001211.6:c.293T>A MANE Select | NP_001202.5:p.Met98Lys |