Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12094222G>T , CM000672.2:g.12094222G>T | GRCh38 |
| NC_000010.10:g.12136221G>T , CM000672.1:g.12136221G>T | GRCh37 |
| NC_000010.9:g.12176227G>T | NCBI36 |
| NG_033248.1:g.30306G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1309G>T MANE Select | NP_061176.4:p.Glu437Ter |
| ENST00000263035.9:c.1309G>T MANE Select | ENSP00000263035.4:p.Glu437Ter |
| NM_018706.6:c.1309G>T | NP_061176.3:p.Glu437Ter |
| ENST00000263035.8:c.1309G>T | ENSP00000263035.4:p.Glu437Ter |
| ENST00000415935.1:c.403G>T | ENSP00000400625.1:p.Glu135Ter |
| ENST00000465617.1:n.449G>T |