Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.78086458G>A , CM000663.2:g.78086458G>A | GRCh38 |
| NC_000001.10:g.78552142G>A , CM000663.1:g.78552142G>A | GRCh37 |
| NC_000001.9:g.78324730G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370759.4:c.426+5598G>A MANE Select | ENSP00000359795.3:n.426+5598G>A | |
| ENST00000370759.3:c.426+5598G>A | ENSP00000359795.3:n.426+5598G>A | |
| ENST00000476882.1:n.264+5598G>A | ||
| NM_001304725.1:c.204+5598G>A | NP_001291654.1:n.204+5598G>A | |
| NM_017655.5:c.426+5598G>A | NP_060125.4:n.426+5598G>A | |
| XM_011541620.1:c.276+5598G>A | XP_011539922.1:n.276+5598G>A | |
| NM_017655.6:c.426+5598G>A MANE Select | NP_060125.4:n.426+5598G>A | |
| NM_001304725.2:c.204+5598G>A | NP_001291654.1:n.204+5598G>A |