Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454466C>G , CM000679.2:g.7454466C>G | GRCh38 |
| NC_000017.10:g.7357785C>G , CM000679.1:g.7357785C>G | GRCh37 |
| NC_000017.9:g.7298509C>G | NCBI36 |
| NG_008026.1:g.14380C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.990C>G MANE Select | ENSP00000304290.2:p.Leu330= | |
| ENST00000306071.6:c.990C>G | ENSP00000304290.2:p.Leu330= | |
| ENST00000536404.6:c.774C>G | ENSP00000439209.2:p.Leu258= | |
| ENST00000570557.5:c.653C>G | ||
| ENST00000573209.1:n.1934C>G | ||
| ENST00000576360.1:c.627C>G | ENSP00000459092.1:p.Leu209= | |
| NM_000747.2:c.990C>G | NP_000738.2:p.Leu330= | |
| NM_000747.3:c.990C>G MANE Select | NP_000738.2:p.Leu330= |