Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454328G>A , CM000679.2:g.7454328G>A | GRCh38 |
| NC_000017.10:g.7357647G>A , CM000679.1:g.7357647G>A | GRCh37 |
| NC_000017.9:g.7298371G>A | NCBI36 |
| NG_008026.1:g.14242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.852G>A MANE Select | ENSP00000304290.2:p.Leu284= | |
| ENST00000306071.6:c.852G>A | ENSP00000304290.2:p.Leu284= | |
| ENST00000536404.6:c.636G>A | ENSP00000439209.2:p.Leu212= | |
| ENST00000570557.5:c.515G>A | ||
| ENST00000573209.1:n.1796G>A | ||
| ENST00000576360.1:c.605-116G>A | ENSP00000459092.1:n.605-116G>A | |
| NM_000747.2:c.852G>A | NP_000738.2:p.Leu284= | |
| NM_000747.3:c.852G>A MANE Select | NP_000738.2:p.Leu284= |