Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144398549G>C , CM000669.2:g.144398549G>C | GRCh38 |
| NC_000007.13:g.144095642G>C , CM000669.1:g.144095642G>C | GRCh37 |
| NC_000007.12:g.143726575G>C | NCBI36 |
| NG_028979.1:g.16679C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643164.1:c.604C>G | ENSP00000495343.1:p.Leu202Val | |
| ENST00000645489.1:c.1156C>G | ENSP00000496732.1:p.Leu386Val | |
| ENST00000467773.1:c.1507C>G MANE Select | ENSP00000419457.1:p.Leu503Val | |
| ENST00000483238.5:c.1411C>G | ENSP00000419565.1:p.Leu471Val | |
| NM_001080413.3:c.1507C>G MANE Select | NP_001073882.3:p.Leu503Val | |
| XM_011515791.1:c.1156C>G | XP_011514093.1:p.Leu386Val | |
| XM_017011742.2:c.1411C>G | XP_016867231.1:p.Leu471Val |