Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40161264G>A , CM000677.2:g.40161264G>A | GRCh38 |
| NC_000015.9:g.40453465G>A , CM000677.1:g.40453465G>A | GRCh37 |
| NC_000015.8:g.38240757G>A | NCBI36 |
| NG_016338.1:g.5256G>A , LRG_489:g.5256G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.35+9G>A MANE Select | ENSP00000287598.7:n.35+9G>A | |
| ENST00000287598.10:c.35+9G>A | ENSP00000287598.6:n.35+9G>A | |
| ENST00000412359.7:c.35+9G>A | ENSP00000398470.3:n.35+9G>A | |
| ENST00000558715.5:c.35+9G>A | ENSP00000453861.1:n.35+9G>A | |
| ENST00000559414.5:n.213+9G>A | ||
| ENST00000560120.5:n.233+9G>A | ||
| NM_001211.5:c.35+9G>A , LRG_489t1:c.35+9G>A | NP_001202.4:n.35+9G>A | |
| NM_001211.6:c.35+9G>A MANE Select | NP_001202.5:n.35+9G>A |