Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74524623C>A , CM000685.2:g.74524623C>A | GRCh38 |
| NC_000023.10:g.73744458C>A , CM000685.1:g.73744458C>A | GRCh37 |
| NC_000023.9:g.73661183C>A | NCBI36 |
| NG_011641.1:g.108374C>A | |
| NG_011641.2:g.108374C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.840C>A MANE Select | NP_006508.2:p.Tyr280Ter |
| ENST00000587091.6:c.840C>A MANE Select | ENSP00000465734.1:p.Tyr280Ter |
| NM_006517.4:c.840C>A | NP_006508.2:p.Tyr280Ter |
| ENST00000587091.5:c.840C>A | ENSP00000465734.1:p.Tyr280Ter |
| ENST00000590447.1:c.280C>A | |
| ENST00000636771.1:c.749C>A | |
| XM_005262294.1:c.840C>A | XP_005262351.1:p.Tyr280Ter |
| XM_011531015.1:c.840C>A | XP_011529317.1:p.Tyr280Ter |