Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516671T>A , CM000674.2:g.52516671T>A | GRCh38 |
| NC_000012.11:g.52910455T>A , CM000674.1:g.52910455T>A | GRCh37 |
| NC_000012.10:g.51196722T>A | NCBI36 |
| NG_008297.1:g.8789A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1405A>T MANE Select | NP_000415.2:p.Thr469Ser |
| ENST00000252242.9:c.1405A>T MANE Select | ENSP00000252242.4:p.Thr469Ser |
| NM_000424.3:c.1405A>T | NP_000415.2:p.Thr469Ser |
| ENST00000252242.8:c.1405A>T | ENSP00000252242.4:p.Thr469Ser |
| ENST00000548409.5:c.527A>T | |
| ENST00000549511.5:n.612A>T | |
| ENST00000552629.5:n.1503A>T |