Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169549811C= , CM000663.2:g.169549811C= | GRCh38 |
| NG_011806.1:g.41721G= , LRG_553:g.41721G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1601G= MANE Select | ENSP00000356771.3:p.Arg534= | |
| ENST00000367796.3:c.1601G= | ENSP00000356770.3:p.Arg534= | |
| ENST00000367797.7:c.1601G= | ENSP00000356771.3:p.Arg534= | |
| NM_000130.4:c.1601G= , LRG_553t1:c.1601G= | NP_000121.2:p.Arg534= | |
| XM_017000660.2:c.1190G= | XP_016856149.1:p.Arg397= | |
| NM_000130.5:c.1601G= MANE Select | NP_000121.2:p.Arg534= |