Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516671T= , CM000674.2:g.52516671T= | GRCh38 |
| NC_000012.11:g.52910455T= , CM000674.1:g.52910455T= | GRCh37 |
| NC_000012.10:g.51196722T= | NCBI36 |
| NG_008297.1:g.8789A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1405A= MANE Select | ENSP00000252242.4:p.Thr469= | |
| ENST00000252242.8:c.1405A= | ENSP00000252242.4:p.Thr469= | |
| ENST00000548409.5:c.527A= | ||
| ENST00000549511.5:n.612A= | ||
| ENST00000552629.5:n.1503A= | ||
| NM_000424.3:c.1405A= | NP_000415.2:p.Thr469= | |
| NM_000424.4:c.1405A= MANE Select | NP_000415.2:p.Thr469= |