Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411085C>T , CM000677.2:g.48411085C>T | GRCh38 |
| NC_000015.9:g.48703282C>T , CM000677.1:g.48703282C>T | GRCh37 |
| NC_000015.8:g.46490574C>T | NCBI36 |
| NG_008805.2:g.239704G>A , LRG_778:g.239704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1329G>A | ENSP00000453958.2:n.*1329G>A | |
| ENST00000682158.1:n.1902G>A | ||
| ENST00000682170.1:n.2702G>A | ||
| ENST00000682767.1:n.1818G>A | ||
| ENST00000316623.10:c.8521G>A MANE Select | ENSP00000325527.5:p.Glu2841Lys | |
| ENST00000316623.9:c.8521G>A | ENSP00000325527.5:p.Glu2841Lys | |
| ENST00000559133.5:c.3890G>A | ||
| NM_000138.4:c.8521G>A , LRG_778t1:c.8521G>A | NP_000129.3:p.Glu2841Lys | |
| NM_000138.5:c.8521G>A MANE Select | NP_000129.3:p.Glu2841Lys |