Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612930A>G , CM000668.2:g.1612930A>G | GRCh38 |
| NC_000006.11:g.1613165A>G , CM000668.1:g.1613165A>G | GRCh37 |
| NC_000006.10:g.1558164A>G | NCBI36 |
| NG_009368.1:g.7485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*823A>G MANE Select | ENSP00000493906.1:n.*823A>G | |
| ENST00000380874.3:c.*823A>G | ENSP00000370256.2:n.*823A>G | |
| NM_001453.2:c.2485A>G | NP_001444.2:n.2485A>G | |
| NM_001453.3:c.*823A>G MANE Select | NP_001444.2:n.*823A>G |