Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154825C= , CM000681.2:g.55154825C= | GRCh38 |
| NC_000019.9:g.55666193C= , CM000681.1:g.55666193C= | GRCh37 |
| NC_000019.8:g.60358005C= | NCBI36 |
| NG_007866.2:g.7908G= , LRG_432:g.7908G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.288G= MANE Select | ENSP00000341838.5:p.Leu96= | |
| ENST00000665070.1:c.288G= | ENSP00000499482.1:p.Leu96= | |
| ENST00000344887.9:c.288G= | ENSP00000341838.5:p.Leu96= | |
| ENST00000585806.5:n.287G= | ||
| ENST00000586669.5:n.296G= | ||
| ENST00000587176.5:n.472G= | ||
| ENST00000587871.1:c.907G= | ||
| ENST00000588882.1:c.213G= | ENSP00000466729.1:p.Leu71= | |
| ENST00000590463.1:n.460G= | ||
| NM_000363.4:c.288G= , LRG_432t1:c.288G= | NP_000354.4:p.Leu96= | |
| NM_000363.5:c.288G= MANE Select | NP_000354.4:p.Leu96= |