Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421999G= , CM000677.2:g.48421999G= | GRCh38 |
| NC_000015.9:g.48714196G= , CM000677.1:g.48714196G= | GRCh37 |
| NC_000015.8:g.46501488G= | NCBI36 |
| NG_008805.2:g.228790C= , LRG_778:g.228790C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*331C= | ENSP00000453958.2:n.*331C= | |
| ENST00000674301.2:c.*1036C= | ENSP00000501333.2:n.*1036C= | |
| ENST00000682170.1:n.1704C= | ||
| ENST00000682767.1:n.820C= | ||
| ENST00000316623.10:c.7523C= MANE Select | ENSP00000325527.5:p.Thr2508= | |
| ENST00000674301.1:c.2689C= | ENSP00000501333.1:n.2689C= | |
| ENST00000316623.9:c.7523C= | ENSP00000325527.5:p.Thr2508= | |
| ENST00000559133.5:c.2892C= | ||
| NM_000138.4:c.7523C= , LRG_778t1:c.7523C= | NP_000129.3:p.Thr2508= | |
| NM_000138.5:c.7523C= MANE Select | NP_000129.3:p.Thr2508= |