Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21701202C>G , CM000675.2:g.21701202C>G | GRCh38 |
| NC_000013.10:g.22275341C>G , CM000675.1:g.22275341C>G | GRCh37 |
| NC_000013.9:g.21173341C>G | NCBI36 |
| NG_016272.1:g.35127C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.394C>G MANE Select | ENSP00000371790.5:p.Gln132Glu | |
| ENST00000382353.5:c.394C>G | ENSP00000371790.5:p.Gln132Glu | |
| ENST00000461657.1:n.328C>G | ||
| ENST00000478546.1:n.154C>G | ||
| NM_002010.2:c.394C>G | NP_002001.1:p.Gln132Glu | |
| XM_011534996.1:c.244C>G | XP_011533298.1:p.Gln82Glu | |
| XM_011534996.2:c.244C>G | XP_011533298.1:p.Gln82Glu | |
| NM_002010.3:c.394C>G MANE Select | NP_002001.1:p.Gln132Glu |