HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45984404G>A , CM000683.2:g.45984404G>A | GRCh38 |
NC_000021.8:g.47404318G>A , CM000683.1:g.47404318G>A | GRCh37 |
NC_000021.7:g.46228746G>A | NCBI36 |
NG_008674.1:g.7656G>A , LRG_475:g.7656G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.363G>A MANE Select | ENSP00000355180.3:p.Lys121= | |
ENST00000361866.7:c.363G>A | ENSP00000355180.3:p.Lys121= | |
ENST00000612273.1:c.363G>A | ENSP00000483630.1:p.Lys121= | |
NM_001848.2:c.363G>A , LRG_475t1:c.363G>A | NP_001839.2:p.Lys121= | |
NM_001848.3:c.363G>A MANE Select | NP_001839.2:p.Lys121= |