| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169556687C>T , CM000663.2:g.169556687C>T | GRCh38 |
| NC_000001.10:g.169525925C>T , CM000663.1:g.169525925C>T | GRCh37 |
| NC_000001.9:g.167792549C>T | NCBI36 |
| NG_011806.1:g.34845G>A , LRG_553:g.34845G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.911G>A MANE Select | NP_000121.2:p.Gly304Glu |
| ENST00000367797.9:c.911G>A MANE Select | ENSP00000356771.3:p.Gly304Glu |
| NM_000130.4:c.911G>A , LRG_553t1:c.911G>A | NP_000121.2:p.Gly304Glu |
| ENST00000367796.3:c.911G>A | ENSP00000356770.3:p.Gly304Glu |
| ENST00000367797.7:c.911G>A | ENSP00000356771.3:p.Gly304Glu |
| XM_017000660.2:c.500G>A | XP_016856149.1:p.Gly167Glu |