Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913122G>C , CM000674.2:g.110913122G>C | GRCh38 |
| NC_000012.11:g.111350926G>C , CM000674.1:g.111350926G>C | GRCh37 |
| NC_000012.10:g.109835309G>C | NCBI36 |
| NG_007554.1:g.12456C>G , LRG_393:g.12456C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.376C>G MANE Select | ENSP00000228841.8:p.Gln126Glu | |
| ENST00000663220.1:c.319C>G | ENSP00000499568.1:p.Gln107Glu | |
| ENST00000228841.12:c.376C>G | ENSP00000228841.7:p.Gln126Glu | |
| ENST00000548438.1:c.334C>G | ENSP00000447154.1:p.Gln112Glu | |
| NM_000432.3:c.376C>G , LRG_393t1:c.376C>G | NP_000423.2:p.Gln126Glu | |
| NM_000432.4:c.376C>G MANE Select | NP_000423.2:p.Gln126Glu |