Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002609C>T , CM000683.2:g.46002609C>T | GRCh38 |
| NC_000021.8:g.47422523C>T , CM000683.1:g.47422523C>T | GRCh37 |
| NC_000021.7:g.46246951C>T | NCBI36 |
| NG_008674.1:g.25861C>T , LRG_475:g.25861C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2333C>T MANE Select | NP_001839.2:p.Ala778Val |
| ENST00000361866.8:c.2333C>T MANE Select | ENSP00000355180.3:p.Ala778Val |
| NM_001848.2:c.2333C>T , LRG_475t1:c.2333C>T | NP_001839.2:p.Ala778Val |
| ENST00000361866.7:c.2333C>T | ENSP00000355180.3:p.Ala778Val |
| ENST00000463060.5:n.732C>T | |
| ENST00000463060.6:n.732C>T | |
| ENST00000486023.1:n.121C>T | |
| ENST00000498614.5:n.567C>T | |
| ENST00000612273.1:c.2327C>T | ENSP00000483630.1:p.Ala776Val |
| ENST00000612273.2:c.459C>T | |
| ENST00000682634.1:c.459C>T |