Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555300T= , CM000663.2:g.169555300T= | GRCh38 |
| NC_000001.10:g.169524538T= , CM000663.1:g.169524538T= | GRCh37 |
| NC_000001.9:g.167791162T= | NCBI36 |
| NG_011806.1:g.36232A= , LRG_553:g.36232A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.1000A= MANE Select | NP_000121.2:p.Arg334= |
| ENST00000367797.9:c.1000A= MANE Select | ENSP00000356771.3:p.Arg334= |
| NM_000130.4:c.1000A= , LRG_553t1:c.1000A= | NP_000121.2:p.Arg334= |
| ENST00000367796.3:c.1000A= | ENSP00000356770.3:p.Arg334= |
| ENST00000367797.7:c.1000A= | ENSP00000356771.3:p.Arg334= |
| XM_017000660.2:c.589A= | XP_016856149.1:p.Arg197= |