Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74524755G>A , CM000685.2:g.74524755G>A | GRCh38 |
| NC_000023.10:g.73744590G>A , CM000685.1:g.73744590G>A | GRCh37 |
| NC_000023.9:g.73661315G>A | NCBI36 |
| NG_011641.1:g.108506G>A | |
| NG_011641.2:g.108506G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.972G>A MANE Select | NP_006508.2:p.Trp324Ter |
| ENST00000587091.6:c.972G>A MANE Select | ENSP00000465734.1:p.Trp324Ter |
| NM_006517.4:c.972G>A | NP_006508.2:p.Trp324Ter |
| ENST00000587091.5:c.972G>A | ENSP00000465734.1:p.Trp324Ter |
| ENST00000590447.1:c.412G>A | |
| ENST00000636771.1:c.881G>A | |
| XM_005262294.1:c.972G>A | XP_005262351.1:p.Trp324Ter |
| XM_011531015.1:c.972G>A | XP_011529317.1:p.Trp324Ter |