Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154052A= , CM000681.2:g.55154052A= | GRCh38 |
| NC_000019.9:g.55665420A= , CM000681.1:g.55665420A= | GRCh37 |
| NC_000019.8:g.60357232A= | NCBI36 |
| NG_007866.2:g.8681T= , LRG_432:g.8681T= | |
| NG_011829.2:g.187T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.527T= MANE Select | ENSP00000341838.5:p.Val176= | |
| ENST00000665070.1:c.560T= | ENSP00000499482.1:p.Val187= | |
| ENST00000344887.9:c.527T= | ENSP00000341838.5:p.Val176= | |
| ENST00000585806.5:n.526T= | ||
| ENST00000588882.1:c.452T= | ENSP00000466729.1:p.Val151= | |
| ENST00000589864.1:n.355T= | ||
| NM_000363.4:c.527T= , LRG_432t1:c.527T= | NP_000354.4:p.Val176= | |
| NM_000363.5:c.527T= MANE Select | NP_000354.4:p.Val176= |