Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519038G= , CM000674.2:g.52519038G= | GRCh38 |
| NC_000012.11:g.52912822G= , CM000674.1:g.52912822G= | GRCh37 |
| NC_000012.10:g.51199089G= | NCBI36 |
| NG_008297.1:g.6422C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.678C= MANE Select | ENSP00000252242.4:p.Leu226= | |
| ENST00000252242.8:c.678C= | ENSP00000252242.4:p.Leu226= | |
| ENST00000549420.1:c.348C= | ENSP00000447209.1:p.Leu116= | |
| ENST00000551013.1:n.206C= | ||
| ENST00000551188.5:c.80C= | ||
| ENST00000552629.5:n.776C= | ||
| NM_000424.3:c.678C= | NP_000415.2:p.Leu226= | |
| NM_000424.4:c.678C= MANE Select | NP_000415.2:p.Leu226= |