Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.257086G>A , CM000669.2:g.257086G>A | GRCh38 |
| NC_000007.13:g.297052G>A , CM000669.1:g.297052G>A | GRCh37 |
| NG_033970.1:g.66722G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1445G>A MANE Select | NP_064608.2:p.Gly482Glu |
| ENST00000313766.6:c.1445G>A MANE Select | ENSP00000322323.5:p.Gly482Glu |
| NM_020223.3:c.1445G>A | NP_064608.2:p.Gly482Glu |
| ENST00000313766.5:c.1445G>A | ENSP00000322323.5:p.Gly482Glu |
| ENST00000512382.1:n.651G>A | |
| ENST00000515795.1:n.1102G>A | |
| XM_017012450.1:c.1706G>A | XP_016867939.1:p.Gly569Glu |
| XM_017012451.1:c.1703G>A | XP_016867940.1:p.Gly568Glu |
| XM_017012455.2:c.743G>A | XP_016867944.1:p.Gly248Glu |
| XR_242097.3:n.1592G>A |