Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425392T= , CM000677.2:g.48425392T= | GRCh38 |
| NC_000015.9:g.48717589T= , CM000677.1:g.48717589T= | GRCh37 |
| NC_000015.8:g.46504881T= | NCBI36 |
| NG_008805.2:g.225397A= , LRG_778:g.225397A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*238A= | ENSP00000453958.2:n.*238A= | |
| ENST00000674301.2:c.*943A= | ENSP00000501333.2:n.*943A= | |
| ENST00000682170.1:n.1611A= | ||
| ENST00000682767.1:n.727A= | ||
| ENST00000316623.10:c.7430A= MANE Select | ENSP00000325527.5:p.Gln2477= | |
| ENST00000674301.1:c.2596A= | ENSP00000501333.1:n.2596A= | |
| ENST00000316623.9:c.7430A= | ENSP00000325527.5:p.Gln2477= | |
| ENST00000559133.5:c.2799A= | ||
| NM_000138.4:c.7430A= , LRG_778t1:c.7430A= | NP_000129.3:p.Gln2477= | |
| NM_000138.5:c.7430A= MANE Select | NP_000129.3:p.Gln2477= |