HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184059941C>G , CM000665.2:g.184059941C>G | GRCh38 |
NC_000003.11:g.183777729C>G , CM000665.1:g.183777729C>G | GRCh37 |
NC_000003.10:g.185260423C>G | NCBI36 |
NG_012749.1:g.11895C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1039C>G MANE Select | ENSP00000322617.1:p.Leu347Val | |
ENST00000318351.1:c.1039C>G | ENSP00000322617.1:p.Leu347Val | |
NM_130770.2:c.1039C>G | NP_570126.2:p.Leu347Val | |
NM_130770.3:c.1039C>G MANE Select | NP_570126.2:p.Leu347Val |