Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30906588C>A , CM000675.2:g.30906588C>A | GRCh38 |
| NC_000013.10:g.31480725C>A , CM000675.1:g.31480725C>A | GRCh37 |
| NC_000013.9:g.30378725C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380482.9:c.73C>A (MEDAG) MANE Select | ENSP00000369849.4:p.Leu25Met | |
| ENST00000380482.8:c.73C>A (MEDAG) | ENSP00000369849.4:p.Leu25Met | |
| NM_032849.3:c.73C>A (MEDAG) | NP_116238.2:p.Leu25Met | |
| NR_038287.1:n.1438-22528G>T (TEX26-AS1) | ||
| XR_941683.1:n.390C>A (MEDAG) | ||
| NM_032849.4:c.73C>A (MEDAG) MANE Select | NP_116238.3:p.Leu25Met |