Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44297667T>A , CM000683.2:g.44297667T>A | GRCh38 |
| NC_000021.8:g.45717550T>A , CM000683.1:g.45717550T>A | GRCh37 |
| NC_000021.7:g.44541978T>A | NCBI36 |
| NG_009556.1:g.16788T>A , LRG_18:g.16788T>A | |
| NG_034033.1:g.2634T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1578T>A MANE Select | NP_000374.1:p.Asp526Glu |
| ENST00000291582.6:c.1578T>A MANE Select | ENSP00000291582.5:p.Asp526Glu |
| NM_000383.3:c.1578T>A | NP_000374.1:p.Asp526Glu |
| ENST00000291582.5:c.1578T>A | ENSP00000291582.5:p.Asp526Glu |
| ENST00000337909.5:n.1039T>A | |
| ENST00000397994.8:n.957T>A | |
| ENST00000527919.5:n.2337T>A | |
| ENST00000530812.5:n.3325T>A | |
| XM_011529551.1:c.1575T>A | XP_011527853.1:p.Asp525Glu |