Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461754C>A , CM000672.2:g.122461754C>A | GRCh38 |
| NC_000010.10:g.124221270C>A , CM000672.1:g.124221270C>A | GRCh37 |
| NC_000010.9:g.124211260C>A | NCBI36 |
| NG_011554.1:g.5230C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.102C>A MANE Select | ENSP00000357980.3:p.Ala34= | |
| ENST00000648167.1:c.154+3045C>A | ENSP00000498033.1:n.154+3045C>A | |
| ENST00000368984.7:c.102C>A | ENSP00000357980.3:p.Ala34= | |
| NM_002775.4:c.102C>A | NP_002766.1:p.Ala34= | |
| NM_002775.5:c.102C>A MANE Select | NP_002766.1:p.Ala34= |