Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411022G= , CM000677.2:g.48411022G= | GRCh38 |
| NC_000015.9:g.48703219G= , CM000677.1:g.48703219G= | GRCh37 |
| NC_000015.8:g.46490511G= | NCBI36 |
| NG_008805.2:g.239767C= , LRG_778:g.239767C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1392C= | ENSP00000453958.2:n.*1392C= | |
| ENST00000682158.1:n.1965C= | ||
| ENST00000682170.1:n.2765C= | ||
| ENST00000682767.1:n.1881C= | ||
| ENST00000316623.10:c.8584C= MANE Select | ENSP00000325527.5:p.Leu2862= | |
| ENST00000316623.9:c.8584C= | ENSP00000325527.5:p.Leu2862= | |
| ENST00000559133.5:c.3953C= | ||
| NM_000138.4:c.8584C= , LRG_778t1:c.8584C= | NP_000129.3:p.Leu2862= | |
| NM_000138.5:c.8584C= MANE Select | NP_000129.3:p.Leu2862= |