Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296401G>T , CM000683.2:g.44296401G>T | GRCh38 |
| NC_000021.8:g.45716284G>T , CM000683.1:g.45716284G>T | GRCh37 |
| NC_000021.7:g.44540712G>T | NCBI36 |
| NG_009556.1:g.15522G>T , LRG_18:g.15522G>T | |
| NG_034033.1:g.1368G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1522G>T MANE Select | NP_000374.1:p.Glu508Ter |
| ENST00000291582.6:c.1522G>T MANE Select | ENSP00000291582.5:p.Glu508Ter |
| NM_000383.3:c.1522G>T | NP_000374.1:p.Glu508Ter |
| ENST00000291582.5:c.1522G>T | ENSP00000291582.5:p.Glu508Ter |
| ENST00000337909.5:n.983G>T | |
| ENST00000397994.8:n.901G>T | |
| ENST00000527919.5:n.2281G>T | |
| ENST00000530812.5:n.3269G>T | |
| XM_011529551.1:c.1519G>T | XP_011527853.1:p.Glu507Ter |