Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422000T= , CM000677.2:g.48422000T= | GRCh38 |
| NC_000015.9:g.48714197T= , CM000677.1:g.48714197T= | GRCh37 |
| NC_000015.8:g.46501489T= | NCBI36 |
| NG_008805.2:g.228789A= , LRG_778:g.228789A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*330A= | ENSP00000453958.2:n.*330A= | |
| ENST00000674301.2:c.*1035A= | ENSP00000501333.2:n.*1035A= | |
| ENST00000682170.1:n.1703A= | ||
| ENST00000682767.1:n.819A= | ||
| ENST00000316623.10:c.7522A= MANE Select | ENSP00000325527.5:p.Thr2508= | |
| ENST00000674301.1:c.2688A= | ENSP00000501333.1:n.2688A= | |
| ENST00000316623.9:c.7522A= | ENSP00000325527.5:p.Thr2508= | |
| ENST00000559133.5:c.2891A= | ||
| NM_000138.4:c.7522A= , LRG_778t1:c.7522A= | NP_000129.3:p.Thr2508= | |
| NM_000138.5:c.7522A= MANE Select | NP_000129.3:p.Thr2508= |