Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134146024G>A , CM000673.2:g.134146024G>A | GRCh38 |
| NC_000011.9:g.134015919G>A , CM000673.1:g.134015919G>A | GRCh37 |
| NC_000011.8:g.133521129G>A | NCBI36 |
| NG_028348.1:g.82100G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299106.9:c.691G>A MANE Select | ENSP00000299106.4:p.Glu231Lys | |
| ENST00000299106.8:c.691G>A | ENSP00000299106.4:p.Glu231Lys | |
| ENST00000441717.3:c.538G>A | ENSP00000395742.3:p.Glu180Lys | |
| NM_001205329.1:c.538G>A | NP_001192258.1:p.Glu180Lys | |
| NM_032801.4:c.691G>A | NP_116190.3:p.Glu231Lys | |
| NM_032801.5:c.691G>A MANE Select | NP_116190.3:p.Glu231Lys | |
| NM_001205329.2:c.538G>A | NP_001192258.1:p.Glu180Lys |