Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516641A>T , CM000674.2:g.52516641A>T | GRCh38 |
| NC_000012.11:g.52910425A>T , CM000674.1:g.52910425A>T | GRCh37 |
| NC_000012.10:g.51196692A>T | NCBI36 |
| NG_008297.1:g.8819T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1435T>A MANE Select | ENSP00000252242.4:p.Cys479Ser | |
| ENST00000252242.8:c.1435T>A | ENSP00000252242.4:p.Cys479Ser | |
| ENST00000548409.5:c.557T>A | ||
| ENST00000549511.5:n.642T>A | ||
| ENST00000552629.5:n.1533T>A | ||
| NM_000424.3:c.1435T>A | NP_000415.2:p.Cys479Ser | |
| NM_000424.4:c.1435T>A MANE Select | NP_000415.2:p.Cys479Ser |