Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170539A>G , CM000677.2:g.40170539A>G | GRCh38 |
| NC_000015.9:g.40462740A>G , CM000677.1:g.40462740A>G | GRCh37 |
| NC_000015.8:g.38250032A>G | NCBI36 |
| NG_016338.1:g.14531A>G , LRG_489:g.14531A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.242A>G MANE Select | ENSP00000287598.7:p.Tyr81Cys | |
| ENST00000287598.10:c.242A>G | ENSP00000287598.6:p.Tyr81Cys | |
| ENST00000412359.7:c.284A>G | ENSP00000398470.3:p.Tyr95Cys | |
| ENST00000558715.5:c.*75A>G | ENSP00000453861.1:n.*75A>G | |
| ENST00000559414.5:n.420A>G | ||
| ENST00000560120.5:n.296A>G | ||
| NM_001211.5:c.242A>G , LRG_489t1:c.242A>G | NP_001202.4:p.Tyr81Cys | |
| NM_001211.6:c.242A>G MANE Select | NP_001202.5:p.Tyr81Cys |