Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45686598C>G , CM000669.2:g.45686598C>G | GRCh38 |
| NC_000007.13:g.45726197C>G , CM000669.1:g.45726197C>G | GRCh37 |
| NC_000007.12:g.45692722C>G | NCBI36 |
| NG_034198.1:g.117459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297323.12:c.2379C>G MANE Select | ENSP00000297323.7:p.Leu793= | |
| ENST00000297323.11:c.2379C>G | ENSP00000297323.7:p.Leu793= | |
| NM_021116.2:c.2379C>G | NP_066939.1:p.Leu793= | |
| XM_005249584.2:c.2379C>G | XP_005249641.1:p.Leu793= | |
| NM_021116.3:c.2379C>G | NP_066939.1:p.Leu793= | |
| XM_005249584.3:c.2379C>G | XP_005249641.1:p.Leu793= | |
| NM_021116.4:c.2379C>G MANE Select | NP_066939.1:p.Leu793= |