Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45997464A>T , CM000683.2:g.45997464A>T | GRCh38 |
| NC_000021.8:g.47417378A>T , CM000683.1:g.47417378A>T | GRCh37 |
| NC_000021.7:g.46241806A>T | NCBI36 |
| NG_008674.1:g.20716A>T , LRG_475:g.20716A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1442A>T MANE Select | NP_001839.2:p.Glu481Val |
| ENST00000361866.8:c.1442A>T MANE Select | ENSP00000355180.3:p.Glu481Val |
| NM_001848.2:c.1442A>T , LRG_475t1:c.1442A>T | NP_001839.2:p.Glu481Val |
| ENST00000361866.7:c.1442A>T | ENSP00000355180.3:p.Glu481Val |
| ENST00000612273.1:c.1442A>T | ENSP00000483630.1:p.Glu481Val |
| ENST00000683550.1:n.217A>T |