Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156205A= , CM000681.2:g.55156205A= | GRCh38 |
| NC_000019.9:g.55667573A= , CM000681.1:g.55667573A= | GRCh37 |
| NC_000019.8:g.60359385A= | NCBI36 |
| NG_007866.2:g.6528T= , LRG_432:g.6528T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.278T= MANE Select | ENSP00000341838.5:p.Leu93= | |
| ENST00000665070.1:c.278T= | ENSP00000499482.1:p.Leu93= | |
| ENST00000344887.9:c.278T= | ENSP00000341838.5:p.Leu93= | |
| ENST00000585806.5:n.277T= | ||
| ENST00000586669.5:n.286T= | ||
| ENST00000587176.5:n.462T= | ||
| ENST00000587871.1:c.897T= | ||
| ENST00000588882.1:c.203T= | ENSP00000466729.1:p.Leu68= | |
| ENST00000590463.1:n.450T= | ||
| NM_000363.4:c.278T= , LRG_432t1:c.278T= | NP_000354.4:p.Leu93= | |
| NM_000363.5:c.278T= MANE Select | NP_000354.4:p.Leu93= |