Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927704T= , CM000663.2:g.42927704T= | GRCh38 |
| NC_000001.10:g.43393375T= , CM000663.1:g.43393375T= | GRCh37 |
| NC_000001.9:g.43165962T= | NCBI36 |
| NG_008232.1:g.36473A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1179A= MANE Select | ENSP00000416293.2:p.Glu393= | |
| ENST00000674545.1:n.1796A= | ||
| ENST00000674765.1:c.1030-847A= | ENSP00000501811.1:n.1030-847A= | |
| ENST00000675112.1:n.1480A= | ||
| ENST00000676254.1:n.1628A= | ||
| ENST00000426263.7:c.1179A= | ENSP00000416293.2:p.Glu393= | |
| ENST00000475162.3:c.416-726A= | ||
| ENST00000630287.2:c.*494A= | ENSP00000486694.1:n.*494A= | |
| NM_006516.2:c.1179A= | NP_006507.2:p.Glu393= | |
| NM_006516.3:c.1179A= | NP_006507.2:p.Glu393= | |
| NM_006516.4:c.1179A= MANE Select | NP_006507.2:p.Glu393= |