Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411000A= , CM000677.2:g.48411000A= | GRCh38 |
| NC_000015.9:g.48703197A= , CM000677.1:g.48703197A= | GRCh37 |
| NC_000015.8:g.46490489A= | NCBI36 |
| NG_008805.2:g.239789T= , LRG_778:g.239789T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1414T= | ENSP00000453958.2:n.*1414T= | |
| ENST00000682158.1:n.1987T= | ||
| ENST00000682170.1:n.2787T= | ||
| ENST00000682767.1:n.1903T= | ||
| ENST00000316623.10:c.8606T= MANE Select | ENSP00000325527.5:p.Leu2869= | |
| ENST00000316623.9:c.8606T= | ENSP00000325527.5:p.Leu2869= | |
| ENST00000559133.5:c.3975T= | ||
| NM_000138.4:c.8606T= , LRG_778t1:c.8606T= | NP_000129.3:p.Leu2869= | |
| NM_000138.5:c.8606T= MANE Select | NP_000129.3:p.Leu2869= |