Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743577G>T , CM000685.2:g.153743577G>T | GRCh38 |
| NC_000023.10:g.153009031G>T , CM000685.1:g.153009031G>T | GRCh37 |
| NC_000023.9:g.152662225G>T | NCBI36 |
| NG_009022.2:g.23710G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.2080G>T MANE Select | NP_000024.2:p.Glu694Ter |
| ENST00000218104.6:c.2080G>T MANE Select | ENSP00000218104.3:p.Glu694Ter |
| NM_000033.3:c.2080G>T | NP_000024.2:p.Glu694Ter |
| ENST00000218104.5:c.2080G>T | ENSP00000218104.3:p.Glu694Ter |
| XR_938507.1:n.2552G>T | |
| XR_938507.2:n.2552G>T |