Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76137718C>A , CM000679.2:g.76137718C>A | GRCh38 |
| NC_000017.10:g.74133799C>A , CM000679.1:g.74133799C>A | GRCh37 |
| NC_000017.9:g.71645394C>A | NCBI36 |
| NG_013345.1:g.8582G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001454.4:c.901G>T MANE Select | NP_001445.2:p.Glu301Ter |
| ENST00000322957.7:c.901G>T MANE Select | ENSP00000323880.4:p.Glu301Ter |
| NM_001454.3:c.901G>T | NP_001445.2:p.Glu301Ter |
| ENST00000322957.6:c.901G>T | ENSP00000323880.4:p.Glu301Ter |