Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159225577G>A , CM000668.2:g.159225577G>A | GRCh38 |
| NC_000006.11:g.159646609G>A , CM000668.1:g.159646609G>A | GRCh37 |
| NC_000006.10:g.159566597G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297267.14:c.927G>A MANE Select | ENSP00000297267.9:p.Arg309= | |
| ENST00000297267.13:c.927G>A | ENSP00000297267.9:p.Arg309= | |
| ENST00000329629.8:c.802G>A | ||
| ENST00000480856.1:n.562G>A | ||
| NM_032532.2:c.927G>A | NP_115921.2:p.Arg309= | |
| XM_011536190.1:c.858G>A | XP_011534492.1:p.Arg286= | |
| XM_011536191.1:c.576G>A | XP_011534493.1:p.Arg192= | |
| XM_011536190.2:c.858G>A | XP_011534492.1:p.Arg286= | |
| XM_011536191.2:c.576G>A | XP_011534493.1:p.Arg192= | |
| NM_032532.3:c.927G>A MANE Select | NP_115921.2:p.Arg309= |