Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910885C>A , CM000685.2:g.50910885C>A | GRCh38 |
| NC_000023.10:g.50653885C>A , CM000685.1:g.50653885C>A | GRCh37 |
| NC_000023.9:g.50670625C>A | NCBI36 |
| NG_012894.1:g.5102C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.102C>A MANE Select | ENSP00000252677.3:p.Ala34= | |
| ENST00000252677.3:c.102C>A | ENSP00000252677.3:p.Ala34= | |
| NM_005448.2:c.102C>A MANE Select | NP_005439.2:p.Ala34= |