Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589927C>A , CM000672.2:g.110589927C>A | GRCh38 |
| NC_000010.10:g.112349685C>A , CM000672.1:g.112349685C>A | GRCh37 |
| NC_000010.9:g.112339675C>A | NCBI36 |
| NG_012217.1:g.27237C>A , LRG_774:g.27237C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.1445C>A MANE Select | NP_005436.1:p.Ala482Glu |
| ENST00000361804.5:c.1445C>A MANE Select | ENSP00000354720.5:p.Ala482Glu |
| NM_005445.3:c.1445C>A , LRG_774t1:c.1445C>A | NP_005436.1:p.Ala482Glu |
| ENST00000361804.4:c.1445C>A | ENSP00000354720.4:p.Ala482Glu |
| ENST00000684797.1:n.1345C>A | |
| ENST00000684988.1:n.2090C>A | |
| ENST00000687823.1:n.1359C>A | |
| ENST00000689932.1:n.3508C>A | |
| ENST00000691297.1:n.1578C>A | |
| ENST00000691527.1:n.2248C>A | |
| ENST00000692792.1:n.1564C>A |