Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165186C>T , CM000677.2:g.40165186C>T | GRCh38 |
| NC_000015.9:g.40457387C>T , CM000677.1:g.40457387C>T | GRCh37 |
| NC_000015.8:g.38244679C>T | NCBI36 |
| NG_016338.1:g.9178C>T , LRG_489:g.9178C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.169C>T MANE Select | NP_001202.5:p.Gln57Ter |
| ENST00000287598.11:c.169C>T MANE Select | ENSP00000287598.7:p.Gln57Ter |
| NM_001211.5:c.169C>T , LRG_489t1:c.169C>T | NP_001202.4:p.Gln57Ter |
| ENST00000287598.10:c.169C>T | ENSP00000287598.6:p.Gln57Ter |
| ENST00000412359.7:c.169C>T | ENSP00000398470.3:p.Gln57Ter |
| ENST00000558715.5:c.169C>T | ENSP00000453861.1:p.Gln57Ter |
| ENST00000559414.5:n.347C>T | |
| ENST00000560120.5:n.233+3931C>T |