Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516798C>T , CM000674.2:g.52516798C>T | GRCh38 |
| NC_000012.11:g.52910582C>T , CM000674.1:g.52910582C>T | GRCh37 |
| NC_000012.10:g.51196849C>T | NCBI36 |
| NG_008297.1:g.8662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1278G>A MANE Select | ENSP00000252242.4:p.Lys426= | |
| ENST00000252242.8:c.1278G>A | ENSP00000252242.4:p.Lys426= | |
| ENST00000547890.5:n.656G>A | ||
| ENST00000548409.5:c.400G>A | ||
| ENST00000549511.5:n.485G>A | ||
| ENST00000552629.5:n.1376G>A | ||
| NM_000424.3:c.1278G>A | NP_000415.2:p.Lys426= | |
| NM_000424.4:c.1278G>A MANE Select | NP_000415.2:p.Lys426= |