Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22120459T= , CM000663.2:g.22120459T= | GRCh38 |
| NC_000001.10:g.22446952T= , CM000663.1:g.22446952T= | GRCh37 |
| NC_000001.9:g.22319539T= | NCBI36 |
| NG_008974.1:g.27568A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.647A= MANE Select | ENSP00000290167.5:p.Glu216= | |
| ENST00000290167.10:c.647A= | ENSP00000290167.5:p.Glu216= | |
| NM_030761.4:c.647A= | NP_110388.2:p.Glu216= | |
| XM_011541597.1:c.713A= | XP_011539899.1:p.Glu238= | |
| XM_011541598.1:c.482A= | XP_011539900.1:p.Glu161= | |
| XM_011541597.2:c.713A= | XP_011539899.1:p.Glu238= | |
| XM_011541598.2:c.482A= | XP_011539900.1:p.Glu161= | |
| NM_030761.5:c.647A= MANE Select | NP_110388.2:p.Glu216= |