Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726137G>T , CM000685.2:g.153726137G>T | GRCh38 |
| NC_000023.10:g.152991592G>T , CM000685.1:g.152991592G>T | GRCh37 |
| NC_000023.9:g.152644786G>T | NCBI36 |
| NG_009022.2:g.6270G>T | |
| NG_023231.1:g.3610C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.871G>T MANE Select | ENSP00000218104.3:p.Glu291Ter | |
| ENST00000218104.5:c.871G>T | ENSP00000218104.3:p.Glu291Ter | |
| ENST00000370129.4:c.316G>T | ENSP00000359147.3:p.Glu106Ter | |
| NM_000033.3:c.871G>T | NP_000024.2:p.Glu291Ter | |
| XR_938507.1:n.1287G>T | ||
| XR_938507.2:n.1287G>T | ||
| NM_000033.4:c.871G>T MANE Select | NP_000024.2:p.Glu291Ter |