Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598670G>T , CM000680.2:g.31598670G>T | GRCh38 |
| NC_000018.9:g.29178633G>T , CM000680.1:g.29178633G>T | GRCh37 |
| NC_000018.8:g.27432631G>T | NCBI36 |
| NG_009490.1:g.11904G>T , LRG_416:g.11904G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.439G>T MANE Select | NP_000362.1:p.Glu147Ter |
| ENST00000237014.8:c.439G>T MANE Select | ENSP00000237014.4:p.Glu147Ter |
| NM_000371.3:c.439G>T , LRG_416t1:c.439G>T | NP_000362.1:p.Glu147Ter |
| ENST00000237014.7:c.439G>T | ENSP00000237014.3:p.Glu147Ter |
| ENST00000610404.4:c.553G>T | ENSP00000477599.1:p.Glu185Ter |
| ENST00000610404.5:c.343G>T | ENSP00000477599.2:p.Glu115Ter |
| ENST00000613781.1:c.415G>T | ENSP00000479174.1:p.Glu139Ter |
| ENST00000649620.1:c.439G>T | ENSP00000497927.1:p.Glu147Ter |