Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196472563C>T , CM000665.2:g.196472563C>T | GRCh38 |
| NC_000003.11:g.196199434C>T , CM000665.1:g.196199434C>T | GRCh37 |
| NC_000003.10:g.197683831C>T | NCBI36 |
| NG_023425.1:g.36206G>A , LRG_185:g.36206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.972G>A MANE Select | ENSP00000320898.3:p.Glu324= | |
| ENST00000437070.1:c.*544G>A | ENSP00000396712.1:n.*544G>A | |
| NM_152617.3:c.972G>A , LRG_185t1:c.972G>A | NP_689830.2:p.Glu324= | |
| XM_011512489.1:c.153G>A | XP_011510791.1:p.Glu51= | |
| NM_152617.4:c.972G>A MANE Select | NP_689830.2:p.Glu324= |