Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28835097T>A , CM000663.2:g.28835097T>A | GRCh38 |
| NC_000001.10:g.29161609T>A , CM000663.1:g.29161609T>A | GRCh37 |
| NC_000001.9:g.29034196T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234961.7:c.227+22487T>A MANE Select | ENSP00000234961.2:n.227+22487T>A | |
| ENST00000234961.6:c.227+22487T>A | ENSP00000234961.2:n.227+22487T>A | |
| ENST00000621425.1:c.227+22487T>A | ENSP00000477970.1:n.227+22487T>A | |
| NM_000911.3:c.227+22487T>A | NP_000902.3:n.227+22487T>A | |
| NM_000911.4:c.227+22487T>A MANE Select | NP_000902.3:n.227+22487T>A |