Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40176550A>T , CM000677.2:g.40176550A>T | GRCh38 |
| NC_000015.9:g.40468751A>T , CM000677.1:g.40468751A>T | GRCh37 |
| NC_000015.8:g.38256043A>T | NCBI36 |
| NG_016338.1:g.20542A>T , LRG_489:g.20542A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.458A>T MANE Select | NP_001202.5:p.Gln153Leu |
| ENST00000287598.11:c.458A>T MANE Select | ENSP00000287598.7:p.Gln153Leu |
| NM_001211.5:c.458A>T , LRG_489t1:c.458A>T | NP_001202.4:p.Gln153Leu |
| ENST00000287598.10:c.458A>T | ENSP00000287598.6:p.Gln153Leu |
| ENST00000412359.7:c.500A>T | ENSP00000398470.3:p.Gln167Leu |
| ENST00000559414.5:n.526A>T | |
| ENST00000560120.5:n.512A>T | |
| XR_001751506.1:n.392-2066T>A |