Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55226608C>T , CM000667.2:g.55226608C>T | GRCh38 |
| NC_000005.9:g.54522436C>T , CM000667.1:g.54522436C>T | GRCh37 |
| NC_000005.8:g.54558193C>T | NCBI36 |
| NG_051620.1:g.5708G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190787.3:c.277G>A MANE Select | NP_001177716.1:p.Ala93Thr |
| ENST00000513312.3:c.277G>A MANE Select | ENSP00000426359.1:p.Ala93Thr |
| NM_001190787.1:c.277G>A | NP_001177716.1:p.Ala93Thr |
| ENST00000513312.1:c.277G>A | ENSP00000426359.1:p.Ala93Thr |
| ENST00000513468.5:c.277G>A | ENSP00000422165.1:p.Ala93Thr |
| ENST00000515336.1:n.214G>A | |
| XM_017009439.2:c.-636+227G>A | XP_016864928.1:n.-636+227G>A |