Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422014G= , CM000677.2:g.48422014G= | GRCh38 |
| NC_000015.9:g.48714211G= , CM000677.1:g.48714211G= | GRCh37 |
| NC_000015.8:g.46501503G= | NCBI36 |
| NG_008805.2:g.228775C= , LRG_778:g.228775C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*316C= | ENSP00000453958.2:n.*316C= | |
| ENST00000674301.2:c.*1021C= | ENSP00000501333.2:n.*1021C= | |
| ENST00000682170.1:n.1689C= | ||
| ENST00000682767.1:n.805C= | ||
| ENST00000316623.10:c.7508C= MANE Select | ENSP00000325527.5:p.Thr2503= | |
| ENST00000674301.1:c.2674C= | ENSP00000501333.1:n.2674C= | |
| ENST00000316623.9:c.7508C= | ENSP00000325527.5:p.Thr2503= | |
| ENST00000559133.5:c.2877C= | ||
| NM_000138.4:c.7508C= , LRG_778t1:c.7508C= | NP_000129.3:p.Thr2503= | |
| NM_000138.5:c.7508C= MANE Select | NP_000129.3:p.Thr2503= |