HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45984378C>G , CM000683.2:g.45984378C>G | GRCh38 |
NC_000021.8:g.47404292C>G , CM000683.1:g.47404292C>G | GRCh37 |
NC_000021.7:g.46228720C>G | NCBI36 |
NG_008674.1:g.7630C>G , LRG_475:g.7630C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.337C>G MANE Select | ENSP00000355180.3:p.Leu113Val | |
ENST00000361866.7:c.337C>G | ENSP00000355180.3:p.Leu113Val | |
ENST00000612273.1:c.337C>G | ENSP00000483630.1:p.Leu113Val | |
NM_001848.2:c.337C>G , LRG_475t1:c.337C>G | NP_001839.2:p.Leu113Val | |
NM_001848.3:c.337C>G MANE Select | NP_001839.2:p.Leu113Val |