Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506831G>A , CM000672.2:g.122506831G>A | GRCh38 |
| NC_000010.10:g.124266347G>A , CM000672.1:g.124266347G>A | GRCh37 |
| NC_000010.9:g.124256337G>A | NCBI36 |
| NG_011554.1:g.50307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.918G>A MANE Select | ENSP00000357980.3:p.Glu306= | |
| ENST00000648167.1:c.600G>A | ENSP00000498033.1:p.Glu200= | |
| ENST00000368984.7:c.918G>A | ENSP00000357980.3:p.Glu306= | |
| ENST00000420892.1:c.141G>A | ENSP00000412676.1:p.Glu47= | |
| NM_002775.4:c.918G>A | NP_002766.1:p.Glu306= | |
| NM_002775.5:c.918G>A MANE Select | NP_002766.1:p.Glu306= |