Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427567C= , CM000677.2:g.48427567C= | GRCh38 |
| NC_000015.9:g.48719764C= , CM000677.1:g.48719764C= | GRCh37 |
| NC_000015.8:g.46507056C= | NCBI36 |
| NG_008805.2:g.223222G= , LRG_778:g.223222G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.7204G= MANE Select | NP_000129.3:p.Asp2402= |
| ENST00000316623.10:c.7204G= MANE Select | ENSP00000325527.5:p.Asp2402= |
| NM_000138.4:c.7204G= , LRG_778t1:c.7204G= | NP_000129.3:p.Asp2402= |
| ENST00000316623.9:c.7204G= | ENSP00000325527.5:p.Asp2402= |
| ENST00000559133.5:c.2573G= | |
| ENST00000559133.6:c.*12G= | ENSP00000453958.2:n.*12G= |
| ENST00000674301.1:c.2370G= | ENSP00000501333.1:n.2370G= |
| ENST00000674301.2:c.*717G= | ENSP00000501333.2:n.*717G= |
| ENST00000682170.1:n.1385G= | |
| ENST00000682767.1:n.501G= |