Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63607391T= , CM000679.2:g.63607391T= | GRCh38 |
| NC_000017.10:g.61684751T= , CM000679.1:g.61684751T= | GRCh37 |
| NC_000017.9:g.59038483T= | NCBI36 |
| NG_016979.1:g.11521T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016360.4:c.620T= MANE Select | NP_057444.2:p.Leu207= |
| ENST00000258975.7:c.620T= MANE Select | ENSP00000258975.6:p.Leu207= |
| NM_016360.3:c.620T= | NP_057444.2:p.Leu207= |
| ENST00000258975.6:c.620T= | ENSP00000258975.6:p.Leu207= |
| ENST00000581120.1:n.1668T= | |
| ENST00000682060.1:n.382T= | |
| ENST00000684587.1:c.617T= | ENSP00000507435.1:p.Leu206= |
| ENST00000690765.1:c.*446T= | ENSP00000510085.1:n.*446T= |