Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154091G= , CM000681.2:g.55154091G= | GRCh38 |
| NC_000019.9:g.55665459G= , CM000681.1:g.55665459G= | GRCh37 |
| NC_000019.8:g.60357271G= | NCBI36 |
| NG_007866.2:g.8642C= , LRG_432:g.8642C= | |
| NG_011829.2:g.148C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.488C= MANE Select | ENSP00000341838.5:p.Ala163= | |
| ENST00000665070.1:c.521C= | ENSP00000499482.1:p.Ala174= | |
| ENST00000344887.9:c.488C= | ENSP00000341838.5:p.Ala163= | |
| ENST00000585806.5:n.487C= | ||
| ENST00000588882.1:c.413C= | ENSP00000466729.1:p.Ala138= | |
| ENST00000589864.1:n.316C= | ||
| NM_000363.4:c.488C= , LRG_432t1:c.488C= | NP_000354.4:p.Ala163= | |
| NM_000363.5:c.488C= MANE Select | NP_000354.4:p.Ala163= |