Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151904A= , CM000681.2:g.55151904A= | GRCh38 |
| NC_000019.9:g.55663272A= , CM000681.1:g.55663272A= | GRCh37 |
| NC_000019.8:g.60355084A= | NCBI36 |
| NG_007866.2:g.10829T= , LRG_432:g.10829T= | |
| NG_011829.2:g.2335T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.563T= MANE Select | ENSP00000341838.5:p.Val188= | |
| ENST00000665070.1:c.596T= | ENSP00000499482.1:p.Val199= | |
| ENST00000344887.9:c.563T= | ENSP00000341838.5:p.Val188= | |
| ENST00000585806.5:n.562T= | ||
| ENST00000588882.1:c.488T= | ENSP00000466729.1:p.Val163= | |
| ENST00000589864.1:n.391T= | ||
| NM_000363.4:c.563T= , LRG_432t1:c.563T= | NP_000354.4:p.Val188= | |
| NM_000363.5:c.563T= MANE Select | NP_000354.4:p.Val188= |