Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62838748C>A , CM000682.2:g.62838748C>A | GRCh38 |
| NC_000020.10:g.61470100C>A , CM000682.1:g.61470100C>A | GRCh37 |
| NC_000020.9:g.60940545C>A | NCBI36 |
| NG_016353.1:g.26687C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001853.4:c.1851C>A MANE Select | NP_001844.3:p.Asp617Glu |
| ENST00000649368.1:c.1851C>A MANE Select | ENSP00000496793.1:p.Asp617Glu |
| NM_001853.3:c.1851C>A | NP_001844.3:p.Asp617Glu |
| ENST00000343916.7:c.1851C>A | ENSP00000341640.3:p.Asp617Glu |
| ENST00000462700.5:n.606C>A | |
| ENST00000466192.5:n.1578C>A | |
| ENST00000466532.1:n.409C>A | |
| ENST00000467819.5:n.362C>A | |
| XM_011528543.1:c.1704C>A | XP_011526845.1:p.Asp568Glu |
| XM_011528544.1:c.1644C>A | XP_011526846.1:p.Asp548Glu |
| XR_936499.1:n.1788C>A |