Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3775818G>A , CM000663.2:g.3775818G>A | GRCh38 |
| NC_000001.10:g.3692382G>A , CM000663.1:g.3692382G>A | GRCh37 |
| NC_000001.9:g.3682242G>A | NCBI36 |
| NG_033869.1:g.8058G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001288583.2:c.134G>A MANE Select | NP_001275512.1:p.Gly45Asp |
| ENST00000642557.4:c.134G>A MANE Select | ENSP00000496314.2:p.Gly45Asp |
| NM_001163724.2:c.134G>A | NP_001157196.1:p.Gly45Asp |
| NM_001163724.3:c.134G>A | NP_001157196.1:p.Gly45Asp |
| NM_001288583.1:c.134G>A | NP_001275512.1:p.Gly45Asp |
| NM_001379690.1:c.134G>A | NP_001366619.1:p.Gly45Asp |
| NM_001379691.1:c.134G>A | NP_001366620.1:p.Gly45Asp |
| ENST00000444870.6:c.134G>A | ENSP00000457386.1:p.Gly45Asp |
| ENST00000444870.7:c.134G>A | ENSP00000457386.1:p.Gly45Asp |