Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516757T= , CM000674.2:g.52516757T= | GRCh38 |
| NC_000012.11:g.52910541T= , CM000674.1:g.52910541T= | GRCh37 |
| NC_000012.10:g.51196808T= | NCBI36 |
| NG_008297.1:g.8703A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1319A= MANE Select | ENSP00000252242.4:p.Gln440= | |
| ENST00000252242.8:c.1319A= | ENSP00000252242.4:p.Gln440= | |
| ENST00000547890.5:n.697A= | ||
| ENST00000548409.5:c.441A= | ||
| ENST00000549511.5:n.526A= | ||
| ENST00000552629.5:n.1417A= | ||
| NM_000424.3:c.1319A= | NP_000415.2:p.Gln440= | |
| NM_000424.4:c.1319A= MANE Select | NP_000415.2:p.Gln440= |