Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21595509C>G , CM000668.2:g.21595509C>G | GRCh38 |
| NC_000006.11:g.21595740C>G , CM000668.1:g.21595740C>G | GRCh37 |
| NC_000006.10:g.21703719C>G | NCBI36 |
| NG_029166.1:g.6769C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.975C>G MANE Select | NP_003098.1:p.Tyr325Ter |
| ENST00000244745.4:c.975C>G MANE Select | ENSP00000244745.1:p.Tyr325Ter |
| NM_003107.2:c.975C>G | NP_003098.1:p.Tyr325Ter |
| ENST00000244745.2:c.975C>G | ENSP00000244745.1:p.Tyr325Ter |