Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169549811C>T , CM000663.2:g.169549811C>T | GRCh38 |
| NG_011806.1:g.41721G>A , LRG_553:g.41721G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.1601G>A MANE Select | NP_000121.2:p.Arg534Gln |
| ENST00000367797.9:c.1601G>A MANE Select | ENSP00000356771.3:p.Arg534Gln |
| NM_000130.4:c.1601G>A , LRG_553t1:c.1601G>A | NP_000121.2:p.Arg534Gln |
| ENST00000367796.3:c.1601G>A | ENSP00000356770.3:p.Arg534Gln |
| ENST00000367797.7:c.1601G>A | ENSP00000356771.3:p.Arg534Gln |
| XM_017000660.2:c.1190G>A | XP_016856149.1:p.Arg397Gln |