Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154094C>A , CM000681.2:g.55154094C>A | GRCh38 |
| NC_000019.9:g.55665462C>A , CM000681.1:g.55665462C>A | GRCh37 |
| NC_000019.8:g.60357274C>A | NCBI36 |
| NG_007866.2:g.8639G>T , LRG_432:g.8639G>T | |
| NG_011829.2:g.145G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.485G>T MANE Select | NP_000354.4:p.Arg162Leu |
| ENST00000344887.10:c.485G>T MANE Select | ENSP00000341838.5:p.Arg162Leu |
| NM_000363.4:c.485G>T , LRG_432t1:c.485G>T | NP_000354.4:p.Arg162Leu |
| ENST00000344887.9:c.485G>T | ENSP00000341838.5:p.Arg162Leu |
| ENST00000585806.5:n.484G>T | |
| ENST00000588882.1:c.410G>T | ENSP00000466729.1:p.Arg137Leu |
| ENST00000589864.1:n.313G>T | |
| ENST00000665070.1:c.518G>T | ENSP00000499482.1:p.Arg173Leu |