Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471699G>A , CM000677.2:g.40471699G>A | GRCh38 |
| NC_000015.9:g.40763898G>A , CM000677.1:g.40763898G>A | GRCh37 |
| NC_000015.8:g.38551190G>A | NCBI36 |
| NG_017074.1:g.5739G>A , LRG_600:g.5739G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.486G>A MANE Select | NP_569735.1:p.Trp162Ter |
| ENST00000306243.7:c.486G>A MANE Select | ENSP00000307297.6:p.Trp162Ter |
| NM_130468.3:c.486G>A , LRG_600t1:c.486G>A | NP_569735.1:p.Trp162Ter |
| ENST00000306243.6:c.486G>A | ENSP00000307297.5:p.Trp162Ter |
| ENST00000559991.1:c.427-16G>A | ENSP00000453882.1:n.427-16G>A |