Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339796C>A , CM000667.2:g.146339796C>A | GRCh38 |
| NC_000005.9:g.145719359C>A , CM000667.1:g.145719359C>A | GRCh37 |
| NC_000005.8:g.145699552C>A | NCBI36 |
| NG_011885.1:g.5773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.369C>A MANE Select | ENSP00000495718.1:p.Ile123= | |
| ENST00000230732.4:c.369C>A | ENSP00000230732.4:p.Ile123= | |
| NM_002700.2:c.369C>A | NP_002691.1:p.Ile123= | |
| NM_002700.3:c.369C>A MANE Select | NP_002691.1:p.Ile123= |