Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170519C>A , CM000677.2:g.40170519C>A | GRCh38 |
| NC_000015.9:g.40462720C>A , CM000677.1:g.40462720C>A | GRCh37 |
| NC_000015.8:g.38250012C>A | NCBI36 |
| NG_016338.1:g.14511C>A , LRG_489:g.14511C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.240-18C>A MANE Select | NP_001202.5:n.240-18C>A |
| ENST00000287598.11:c.240-18C>A MANE Select | ENSP00000287598.7:n.240-18C>A |
| NM_001211.5:c.240-18C>A , LRG_489t1:c.240-18C>A | NP_001202.4:n.240-18C>A |
| ENST00000287598.10:c.240-18C>A | ENSP00000287598.6:n.240-18C>A |
| ENST00000412359.7:c.282-18C>A | ENSP00000398470.3:n.282-18C>A |
| ENST00000558715.5:c.*73-18C>A | ENSP00000453861.1:n.*73-18C>A |
| ENST00000559414.5:n.418-18C>A | |
| ENST00000560120.5:n.294-18C>A |