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