Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169528024C>T , CM000663.2:g.169528024C>T | GRCh38 |
| NC_000001.10:g.169497262C>T , CM000663.1:g.169497262C>T | GRCh37 |
| NC_000001.9:g.167763886C>T | NCBI36 |
| NG_011806.1:g.63508G>A , LRG_553:g.63508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.5490G>A MANE Select | ENSP00000356771.3:p.Leu1830= | |
| ENST00000367796.3:c.5505G>A | ENSP00000356770.3:p.Leu1835= | |
| ENST00000367797.7:c.5490G>A | ENSP00000356771.3:p.Leu1830= | |
| NM_000130.4:c.5490G>A , LRG_553t1:c.5490G>A | NP_000121.2:p.Leu1830= | |
| XM_017000660.2:c.5079G>A | XP_016856149.1:p.Leu1693= | |
| NM_000130.5:c.5490G>A MANE Select | NP_000121.2:p.Leu1830= |