Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154045C>T , CM000681.2:g.55154045C>T | GRCh38 |
| NC_000019.9:g.55665413C>T , CM000681.1:g.55665413C>T | GRCh37 |
| NC_000019.8:g.60357225C>T | NCBI36 |
| NG_007866.2:g.8688G>A , LRG_432:g.8688G>A | |
| NG_011829.2:g.194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.534G>A MANE Select | ENSP00000341838.5:p.Lys178= | |
| ENST00000665070.1:c.567G>A | ENSP00000499482.1:p.Lys189= | |
| ENST00000344887.9:c.534G>A | ENSP00000341838.5:p.Lys178= | |
| ENST00000585806.5:n.533G>A | ||
| ENST00000588882.1:c.459G>A | ENSP00000466729.1:p.Lys153= | |
| ENST00000589864.1:n.362G>A | ||
| NM_000363.4:c.534G>A , LRG_432t1:c.534G>A | NP_000354.4:p.Lys178= | |
| NM_000363.5:c.534G>A MANE Select | NP_000354.4:p.Lys178= |