Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46320289C>A , CM000673.2:g.46320289C>A | GRCh38 |
| NC_000011.9:g.46341840C>A , CM000673.1:g.46341840C>A | GRCh37 |
| NC_000011.8:g.46298416C>A | NCBI36 |
| NG_033264.1:g.47652C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.1284C>A MANE Select | NP_443086.1:p.Tyr428Ter |
| ENST00000621158.5:c.1284C>A MANE Select | ENSP00000481956.1:p.Tyr428Ter |
| NM_052854.3:c.1284C>A | NP_443086.1:p.Tyr428Ter |
| ENST00000534616.5:n.755C>A | |
| ENST00000616094.1:n.878C>A | |
| ENST00000621158.4:c.1284C>A | ENSP00000481956.1:p.Tyr428Ter |