Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165052G>A , CM000677.2:g.40165052G>A | GRCh38 |
| NC_000015.9:g.40457253G>A , CM000677.1:g.40457253G>A | GRCh37 |
| NC_000015.8:g.38244545G>A | NCBI36 |
| NG_016338.1:g.9044G>A , LRG_489:g.9044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.36-1G>A MANE Select | ENSP00000287598.7:n.36-1G>A | |
| ENST00000287598.10:c.36-1G>A | ENSP00000287598.6:n.36-1G>A | |
| ENST00000412359.7:c.36-1G>A | ENSP00000398470.3:n.36-1G>A | |
| ENST00000558715.5:c.36-1G>A | ENSP00000453861.1:n.36-1G>A | |
| ENST00000559414.5:n.214-1G>A | ||
| ENST00000560120.5:n.233+3797G>A | ||
| NM_001211.5:c.36-1G>A , LRG_489t1:c.36-1G>A | NP_001202.4:n.36-1G>A | |
| NM_001211.6:c.36-1G>A MANE Select | NP_001202.5:n.36-1G>A |