Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454430C>G , CM000679.2:g.7454430C>G | GRCh38 |
| NC_000017.10:g.7357749C>G , CM000679.1:g.7357749C>G | GRCh37 |
| NC_000017.9:g.7298473C>G | NCBI36 |
| NG_008026.1:g.14344C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.954C>G MANE Select | ENSP00000304290.2:p.Leu318= | |
| ENST00000306071.6:c.954C>G | ENSP00000304290.2:p.Leu318= | |
| ENST00000536404.6:c.738C>G | ENSP00000439209.2:p.Leu246= | |
| ENST00000570557.5:c.617C>G | ||
| ENST00000573209.1:n.1898C>G | ||
| ENST00000576360.1:c.605-14C>G | ENSP00000459092.1:n.605-14C>G | |
| NM_000747.2:c.954C>G | NP_000738.2:p.Leu318= | |
| NM_000747.3:c.954C>G MANE Select | NP_000738.2:p.Leu318= |