Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421993T= , CM000677.2:g.48421993T= | GRCh38 |
| NC_000015.9:g.48714190T= , CM000677.1:g.48714190T= | GRCh37 |
| NC_000015.8:g.46501482T= | NCBI36 |
| NG_008805.2:g.228796A= , LRG_778:g.228796A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*337A= | ENSP00000453958.2:n.*337A= | |
| ENST00000674301.2:c.*1042A= | ENSP00000501333.2:n.*1042A= | |
| ENST00000682170.1:n.1710A= | ||
| ENST00000682767.1:n.826A= | ||
| ENST00000316623.10:c.7529A= MANE Select | ENSP00000325527.5:p.Lys2510= | |
| ENST00000674301.1:c.2695A= | ENSP00000501333.1:n.2695A= | |
| ENST00000316623.9:c.7529A= | ENSP00000325527.5:p.Lys2510= | |
| ENST00000559133.5:c.2898A= | ||
| NM_000138.4:c.7529A= , LRG_778t1:c.7529A= | NP_000129.3:p.Lys2510= | |
| NM_000138.5:c.7529A= MANE Select | NP_000129.3:p.Lys2510= |