Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165143G>A , CM000677.2:g.40165143G>A | GRCh38 |
| NC_000015.9:g.40457344G>A , CM000677.1:g.40457344G>A | GRCh37 |
| NC_000015.8:g.38244636G>A | NCBI36 |
| NG_016338.1:g.9135G>A , LRG_489:g.9135G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.126G>A MANE Select | NP_001202.5:p.Gln42= |
| ENST00000287598.11:c.126G>A MANE Select | ENSP00000287598.7:p.Gln42= |
| NM_001211.5:c.126G>A , LRG_489t1:c.126G>A | NP_001202.4:p.Gln42= |
| ENST00000287598.10:c.126G>A | ENSP00000287598.6:p.Gln42= |
| ENST00000412359.7:c.126G>A | ENSP00000398470.3:p.Gln42= |
| ENST00000558715.5:c.126G>A | ENSP00000453861.1:p.Gln42= |
| ENST00000559414.5:n.304G>A | |
| ENST00000560120.5:n.233+3888G>A |