HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924384C>G , CM000675.2:g.27924384C>G | GRCh38 |
NC_000013.10:g.28498521C>G , CM000675.1:g.28498521C>G | GRCh37 |
NC_000013.9:g.27396521C>G | NCBI36 |
NG_008183.1:g.9354C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.535C>G MANE Select | ENSP00000370421.4:p.Leu179Val | |
ENST00000381033.4:c.535C>G | ENSP00000370421.4:p.Leu179Val | |
NM_000209.3:c.535C>G | NP_000200.1:p.Leu179Val | |
NM_000209.4:c.535C>G MANE Select | NP_000200.1:p.Leu179Val |