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