Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50250874C>T , CM000680.2:g.50250874C>T | GRCh38 |
| NC_000018.9:g.47777244C>T , CM000680.1:g.47777244C>T | GRCh37 |
| NC_000018.8:g.46031242C>T | NCBI36 |
| NG_042815.1:g.20649G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145020.5:c.880G>A MANE Select | NP_659457.2:p.Glu294Lys |
| ENST00000398545.5:c.880G>A MANE Select | ENSP00000381553.3:p.Glu294Lys |
| NM_145020.3:c.880G>A | NP_659457.2:p.Glu294Lys |
| NM_145020.4:c.880G>A | NP_659457.2:p.Glu294Lys |
| ENST00000398545.4:c.880G>A | ENSP00000381553.3:p.Glu294Lys |
| XM_024451100.1:c.283G>A | XP_024306868.1:p.Glu95Lys |