Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154759G= , CM000681.2:g.55154759G= | GRCh38 |
| NC_000019.9:g.55666127G= , CM000681.1:g.55666127G= | GRCh37 |
| NC_000019.8:g.60357939G= | NCBI36 |
| NG_007866.2:g.7974C= , LRG_432:g.7974C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.354C= MANE Select | ENSP00000341838.5:p.Val118= | |
| ENST00000665070.1:c.354C= | ENSP00000499482.1:p.Val118= | |
| ENST00000344887.9:c.354C= | ENSP00000341838.5:p.Val118= | |
| ENST00000585806.5:n.353C= | ||
| ENST00000586669.5:n.362C= | ||
| ENST00000587176.5:n.538C= | ||
| ENST00000587871.1:c.973C= | ||
| ENST00000588882.1:c.279C= | ENSP00000466729.1:p.Val93= | |
| ENST00000590463.1:n.526C= | ||
| NM_000363.4:c.354C= , LRG_432t1:c.354C= | NP_000354.4:p.Val118= | |
| NM_000363.5:c.354C= MANE Select | NP_000354.4:p.Val118= |