Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165123C>A , CM000677.2:g.40165123C>A | GRCh38 |
| NC_000015.9:g.40457324C>A , CM000677.1:g.40457324C>A | GRCh37 |
| NC_000015.8:g.38244616C>A | NCBI36 |
| NG_016338.1:g.9115C>A , LRG_489:g.9115C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.106C>A MANE Select | ENSP00000287598.7:p.Arg36= | |
| ENST00000287598.10:c.106C>A | ENSP00000287598.6:p.Arg36= | |
| ENST00000412359.7:c.106C>A | ENSP00000398470.3:p.Arg36= | |
| ENST00000558715.5:c.106C>A | ENSP00000453861.1:p.Arg36= | |
| ENST00000559414.5:n.284C>A | ||
| ENST00000560120.5:n.233+3868C>A | ||
| NM_001211.5:c.106C>A , LRG_489t1:c.106C>A | NP_001202.4:p.Arg36= | |
| NM_001211.6:c.106C>A MANE Select | NP_001202.5:p.Arg36= |