Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776784G>A , CM000677.2:g.89776784G>A | GRCh38 |
| NC_000015.9:g.90320015G>A , CM000677.1:g.90320015G>A | GRCh37 |
| NC_000015.8:g.88121019G>A | NCBI36 |
| NG_008608.1:g.5427G>A | |
| NG_008608.2:g.21194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.427G>A MANE Select | ENSP00000342392.3:p.Glu143Lys | |
| ENST00000341735.3:c.427G>A | ENSP00000342392.3:p.Glu143Lys | |
| ENST00000558723.1:n.39-1281G>A | ||
| ENST00000560219.2:c.31-1281G>A | ENSP00000452998.1:n.31-1281G>A | |
| NM_001039958.1:c.427G>A | NP_001035047.1:p.Glu143Lys | |
| NM_001039958.2:c.427G>A MANE Select | NP_001035047.1:p.Glu143Lys |