Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74521008C>A , CM000685.2:g.74521008C>A | GRCh38 |
| NC_000023.10:g.73740843C>A , CM000685.1:g.73740843C>A | GRCh37 |
| NC_000023.9:g.73657568C>A | NCBI36 |
| NG_011641.1:g.104759C>A | |
| NG_011641.2:g.104759C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.449C>A MANE Select | NP_006508.2:p.Ala150Glu |
| ENST00000587091.6:c.449C>A MANE Select | ENSP00000465734.1:p.Ala150Glu |
| NM_006517.4:c.449C>A | NP_006508.2:p.Ala150Glu |
| ENST00000587091.5:c.449C>A | ENSP00000465734.1:p.Ala150Glu |
| ENST00000636771.1:c.358C>A | |
| XM_005262294.1:c.449C>A | XP_005262351.1:p.Ala150Glu |
| XM_011531015.1:c.449C>A | XP_011529317.1:p.Ala150Glu |