Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606342G= , CM000679.2:g.63606342G= | GRCh38 |
| NC_000017.10:g.61683702G= , CM000679.1:g.61683702G= | GRCh37 |
| NC_000017.9:g.59037434G= | NCBI36 |
| NG_016979.1:g.10472G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.179G= | ||
| ENST00000684587.1:c.414G= | ENSP00000507435.1:p.Glu138= | |
| ENST00000690765.1:c.*243G= | ENSP00000510085.1:n.*243G= | |
| ENST00000258975.7:c.417G= MANE Select | ENSP00000258975.6:p.Glu139= | |
| ENST00000258975.6:c.417G= | ENSP00000258975.6:p.Glu139= | |
| ENST00000581120.1:n.619G= | ||
| NM_016360.3:c.417G= | NP_057444.2:p.Glu139= | |
| NM_016360.4:c.417G= MANE Select | NP_057444.2:p.Glu139= |