Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154102C>A , CM000681.2:g.55154102C>A | GRCh38 |
| NC_000019.9:g.55665470C>A , CM000681.1:g.55665470C>A | GRCh37 |
| NC_000019.8:g.60357282C>A | NCBI36 |
| NG_007866.2:g.8631G>T , LRG_432:g.8631G>T | |
| NG_011829.2:g.137G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.477G>T MANE Select | ENSP00000341838.5:p.Leu159= | |
| ENST00000665070.1:c.510G>T | ENSP00000499482.1:p.Leu170= | |
| ENST00000344887.9:c.477G>T | ENSP00000341838.5:p.Leu159= | |
| ENST00000585806.5:n.476G>T | ||
| ENST00000588882.1:c.402G>T | ENSP00000466729.1:p.Leu134= | |
| ENST00000589864.1:n.305G>T | ||
| NM_000363.4:c.477G>T , LRG_432t1:c.477G>T | NP_000354.4:p.Leu159= | |
| NM_000363.5:c.477G>T MANE Select | NP_000354.4:p.Leu159= |