Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86567983G>A , CM000678.2:g.86567983G>A | GRCh38 |
| NC_000016.9:g.86601589G>A , CM000678.1:g.86601589G>A | GRCh37 |
| NC_000016.8:g.85159090G>A | NCBI36 |
| NG_012025.1:g.5733G>A | |
| NG_012025.2:g.6155G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.648G>A MANE Select | ENSP00000497759.1:p.Glu216= | |
| ENST00000320354.5:c.648G>A | ENSP00000326371.4:p.Glu216= | |
| NM_005251.2:c.648G>A | NP_005242.1:p.Glu216= | |
| NM_005251.3:c.648G>A MANE Select | NP_005242.1:p.Glu216= |