Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920334C>A , CM000679.2:g.74920334C>A | GRCh38 |
| NC_000017.10:g.72916429C>A , CM000679.1:g.72916429C>A | GRCh37 |
| NC_000017.9:g.70428024C>A | NCBI36 |
| NG_007882.1:g.7923G>T | |
| NG_033062.1:g.1060C>A | |
| NG_007882.2:g.7930G>T | |
| NG_033062.2:g.1060C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.502G>T MANE Select | NP_775748.2:p.Glu168Ter |
| ENST00000614341.5:c.502G>T MANE Select | ENSP00000480279.1:p.Glu168Ter |
| NM_001282489.2:c.193G>T | NP_001269418.1:p.Glu65Ter |
| NM_001282489.3:c.193G>T | NP_001269418.1:p.Glu65Ter |
| NM_173477.4:c.502G>T | NP_775748.2:p.Glu168Ter |
| ENST00000579243.1:c.*101G>T | ENSP00000462568.1:n.*101G>T |
| ENST00000614341.4:c.502G>T | ENSP00000480279.1:p.Glu168Ter |
| XM_011524296.1:c.193G>T | XP_011522598.1:p.Glu65Ter |
| XM_011524296.2:c.193G>T | XP_011522598.1:p.Glu65Ter |