Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541903T= , CM000663.2:g.169541903T= | GRCh38 |
| NC_000001.10:g.169511141T= , CM000663.1:g.169511141T= | GRCh37 |
| NC_000001.9:g.167777765T= | NCBI36 |
| NG_011806.1:g.49629A= , LRG_553:g.49629A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3187A= MANE Select | ENSP00000356771.3:p.Arg1063= | |
| ENST00000367796.3:c.3202A= | ENSP00000356770.3:p.Arg1068= | |
| ENST00000367797.7:c.3187A= | ENSP00000356771.3:p.Arg1063= | |
| NM_000130.4:c.3187A= , LRG_553t1:c.3187A= | NP_000121.2:p.Arg1063= | |
| XM_017000660.2:c.2776A= | XP_016856149.1:p.Arg926= | |
| NM_000130.5:c.3187A= MANE Select | NP_000121.2:p.Arg1063= |