Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154036G= , CM000681.2:g.55154036G= | GRCh38 |
| NC_000019.9:g.55665404G= , CM000681.1:g.55665404G= | GRCh37 |
| NC_000019.8:g.60357216G= | NCBI36 |
| NG_007866.2:g.8697C= , LRG_432:g.8697C= | |
| NG_011829.2:g.203C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.543C= MANE Select | ENSP00000341838.5:p.Thr181= | |
| ENST00000665070.1:c.576C= | ENSP00000499482.1:p.Thr192= | |
| ENST00000344887.9:c.543C= | ENSP00000341838.5:p.Thr181= | |
| ENST00000585806.5:n.542C= | ||
| ENST00000588882.1:c.468C= | ENSP00000466729.1:p.Thr156= | |
| ENST00000589864.1:n.371C= | ||
| NM_000363.4:c.543C= , LRG_432t1:c.543C= | NP_000354.4:p.Thr181= | |
| NM_000363.5:c.543C= MANE Select | NP_000354.4:p.Thr181= |