Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766107C>T , CM000674.2:g.57766107C>T | GRCh38 |
| NC_000012.11:g.58159890C>T , CM000674.1:g.58159890C>T | GRCh37 |
| NC_000012.10:g.56446157C>T | NCBI36 |
| NG_007076.1:g.6087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.198G>A | ||
| ENST00000713544.1:c.286G>A | ENSP00000518840.1:p.Glu96Lys | |
| ENST00000713545.1:c.286G>A | ENSP00000518841.1:p.Glu96Lys | |
| ENST00000228606.9:c.286G>A MANE Select | ENSP00000228606.4:p.Glu96Lys | |
| ENST00000228606.8:c.286G>A | ENSP00000228606.4:p.Glu96Lys | |
| ENST00000546496.1:n.114G>A | ||
| ENST00000546609.1:c.198G>A | ||
| ENST00000547344.5:n.340G>A | ||
| ENST00000552186.1:n.405G>A | ||
| NM_000785.3:c.286G>A | NP_000776.1:p.Glu96Lys | |
| NM_000785.4:c.286G>A MANE Select | NP_000776.1:p.Glu96Lys |