Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517130C>T , CM000674.2:g.52517130C>T | GRCh38 |
| NC_000012.11:g.52910914C>T , CM000674.1:g.52910914C>T | GRCh37 |
| NC_000012.10:g.51197181C>T | NCBI36 |
| NG_008297.1:g.8330G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1195G>A MANE Select | NP_000415.2:p.Glu399Lys |
| ENST00000252242.9:c.1195G>A MANE Select | ENSP00000252242.4:p.Glu399Lys |
| NM_000424.3:c.1195G>A | NP_000415.2:p.Glu399Lys |
| ENST00000252242.8:c.1195G>A | ENSP00000252242.4:p.Glu399Lys |
| ENST00000547890.5:n.324G>A | |
| ENST00000548409.5:c.317G>A | |
| ENST00000549511.5:n.402G>A | |
| ENST00000552629.5:n.1293G>A |