Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552743G>T , CM000663.2:g.169552743G>T | GRCh38 |
| NC_000001.10:g.169521981G>T , CM000663.1:g.169521981G>T | GRCh37 |
| NC_000001.9:g.167788605G>T | NCBI36 |
| NG_011806.1:g.38789C>A , LRG_553:g.38789C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1119-9C>A MANE Select | ENSP00000356771.3:n.1119-9C>A | |
| ENST00000367796.3:c.1119-9C>A | ENSP00000356770.3:n.1119-9C>A | |
| ENST00000367797.7:c.1119-9C>A | ENSP00000356771.3:n.1119-9C>A | |
| NM_000130.4:c.1119-9C>A , LRG_553t1:c.1119-9C>A | NP_000121.2:n.1119-9C>A | |
| XM_017000660.2:c.708-9C>A | XP_016856149.1:n.708-9C>A | |
| NM_000130.5:c.1119-9C>A MANE Select | NP_000121.2:n.1119-9C>A |