Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329615G>A , CM000677.2:g.73329615G>A | GRCh38 |
| NC_000015.9:g.73621956G>A , CM000677.1:g.73621956G>A | GRCh37 |
| NC_000015.8:g.71409009G>A | NCBI36 |
| NG_009063.1:g.44650C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1548C>T MANE Select | ENSP00000261917.3:p.Leu516= | |
| ENST00000261917.3:c.1548C>T | ENSP00000261917.3:p.Leu516= | |
| NM_005477.2:c.1548C>T | NP_005468.1:p.Leu516= | |
| XM_011521148.1:c.330C>T | XP_011519450.1:p.Leu110= | |
| XM_011521148.2:c.330C>T | XP_011519450.1:p.Leu110= | |
| NM_005477.3:c.1548C>T MANE Select | NP_005468.1:p.Leu516= |