Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542872G= , CM000663.2:g.169542872G= | GRCh38 |
| NC_000001.10:g.169512110G= , CM000663.1:g.169512110G= | GRCh37 |
| NC_000001.9:g.167778734G= | NCBI36 |
| NG_011806.1:g.48660C= , LRG_553:g.48660C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.2218C= MANE Select | NP_000121.2:p.Arg740= |
| ENST00000367797.9:c.2218C= MANE Select | ENSP00000356771.3:p.Arg740= |
| NM_000130.4:c.2218C= , LRG_553t1:c.2218C= | NP_000121.2:p.Arg740= |
| ENST00000367796.3:c.2233C= | ENSP00000356770.3:p.Arg745= |
| ENST00000367797.7:c.2218C= | ENSP00000356771.3:p.Arg740= |
| XM_017000660.2:c.1807C= | XP_016856149.1:p.Arg603= |