Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39606518C>A , CM000679.2:g.39606518C>A | GRCh38 |
| NC_000017.10:g.37762771C>A , CM000679.1:g.37762771C>A | GRCh37 |
| NC_000017.9:g.35016297C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006160.4:c.82G>T MANE Select | NP_006151.3:p.Glu28Ter |
| ENST00000302584.5:c.82G>T MANE Select | ENSP00000306754.4:p.Glu28Ter |
| NM_006160.3:c.82G>T | NP_006151.3:p.Glu28Ter |
| ENST00000302584.4:c.82G>T | ENSP00000306754.4:p.Glu28Ter |
| ENST00000580874.1:n.3260G>T | |
| XM_005257409.2:c.106G>T | XP_005257466.1:p.Glu36Ter |
| XM_011524851.1:c.82G>T | XP_011523153.1:p.Glu28Ter |