Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55964279G>A , CM000666.2:g.55964279G>A | GRCh38 |
| NC_000004.11:g.56830445G>A , CM000666.1:g.56830445G>A | GRCh37 |
| NC_000004.10:g.56525202G>A | NCBI36 |
| NG_032806.1:g.20472G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025009.5:c.705G>A MANE Select | NP_079285.2:p.Glu235= |
| ENST00000257287.5:c.705G>A MANE Select | ENSP00000257287.3:p.Glu235= |
| NM_025009.4:c.705G>A | NP_079285.2:p.Glu235= |
| ENST00000257287.4:c.705G>A | ENSP00000257287.3:p.Glu235= |
| ENST00000515081.1:n.339G>A | |
| XM_005265788.4:c.-363G>A | XP_005265845.1:n.-363G>A |
| XM_006714055.2:c.705G>A | XP_006714118.1:p.Glu235= |
| XM_006714055.3:c.705G>A | XP_006714118.1:p.Glu235= |
| XR_941064.1:n.471+6494C>T |