| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169523905C>T , CM000663.2:g.169523905C>T | GRCh38 |
| NC_000001.10:g.169493143C>T , CM000663.1:g.169493143C>T | GRCh37 |
| NC_000001.9:g.167759767C>T | NCBI36 |
| NG_011806.1:g.67627G>A , LRG_553:g.67627G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.5789-1G>A MANE Select | NP_000121.2:n.5789-1G>A |
| ENST00000367797.9:c.5789-1G>A MANE Select | ENSP00000356771.3:n.5789-1G>A |
| NM_000130.4:c.5789-1G>A , LRG_553t1:c.5789-1G>A | NP_000121.2:n.5789-1G>A |
| ENST00000367796.3:c.5804-1G>A | ENSP00000356770.3:n.5804-1G>A |
| ENST00000367797.7:c.5789-1G>A | ENSP00000356771.3:n.5789-1G>A |
| XM_017000660.2:c.5378-1G>A | XP_016856149.1:n.5378-1G>A |