Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45117274C>T , CM000677.2:g.45117274C>T | GRCh38 |
| NC_000015.9:g.45409472C>T , CM000677.1:g.45409472C>T | GRCh37 |
| NC_000015.8:g.43196764C>T | NCBI36 |
| NG_009447.1:g.1888G>A | |
| NG_016992.1:g.7950C>T | |
| NG_033105.1:g.17604G>A | |
| NG_033105.2:g.17604G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207581.4:c.738C>T MANE Select | NP_997464.2:p.Tyr246= |
| ENST00000323030.6:c.738C>T MANE Select | ENSP00000319705.5:p.Tyr246= |
| NM_207581.3:c.738C>T | NP_997464.2:p.Tyr246= |
| ENST00000323030.5:c.738C>T | ENSP00000319705.5:p.Tyr246= |
| ENST00000350243.10:n.1379C>T | |
| ENST00000491993.2:c.*805C>T | ENSP00000454110.1:n.*805C>T |
| XM_017022180.1:c.789C>T | XP_016877669.1:p.Tyr263= |