Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519789C>A , CM000674.2:g.52519789C>A | GRCh38 |
| NC_000012.11:g.52913573C>A , CM000674.1:g.52913573C>A | GRCh37 |
| NC_000012.10:g.51199840C>A | NCBI36 |
| NG_008297.1:g.5671G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.508G>T MANE Select | NP_000415.2:p.Glu170Ter |
| ENST00000252242.9:c.508G>T MANE Select | ENSP00000252242.4:p.Glu170Ter |
| NM_000424.3:c.508G>T | NP_000415.2:p.Glu170Ter |
| ENST00000252242.8:c.508G>T | ENSP00000252242.4:p.Glu170Ter |
| ENST00000549420.1:c.178G>T | ENSP00000447209.1:p.Glu60Ter |
| ENST00000551275.1:c.403G>T | ENSP00000448041.1:p.Glu135Ter |
| ENST00000552629.5:n.606G>T |