Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411044G>A , CM000677.2:g.48411044G>A | GRCh38 |
| NC_000015.9:g.48703241G>A , CM000677.1:g.48703241G>A | GRCh37 |
| NC_000015.8:g.46490533G>A | NCBI36 |
| NG_008805.2:g.239745C>T , LRG_778:g.239745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1370C>T | ENSP00000453958.2:n.*1370C>T | |
| ENST00000682158.1:n.1943C>T | ||
| ENST00000682170.1:n.2743C>T | ||
| ENST00000682767.1:n.1859C>T | ||
| ENST00000316623.10:c.8562C>T MANE Select | ENSP00000325527.5:p.Leu2854= | |
| ENST00000316623.9:c.8562C>T | ENSP00000325527.5:p.Leu2854= | |
| ENST00000559133.5:c.3931C>T | ||
| NM_000138.4:c.8562C>T , LRG_778t1:c.8562C>T | NP_000129.3:p.Leu2854= | |
| NM_000138.5:c.8562C>T MANE Select | NP_000129.3:p.Leu2854= |