HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20992899T>G , CM000684.2:g.20992899T>G | GRCh38 |
NC_000022.10:g.21347188T>G , CM000684.1:g.21347188T>G | GRCh37 |
NC_000022.9:g.19677188T>G | NCBI36 |
NG_034193.1:g.15631T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000700578.1:c.1255T>G | ENSP00000515073.1:p.Phe419Val | |
ENST00000495142.6:n.600T>G | ||
ENST00000642151.1:c.1086T>G | ||
ENST00000643578.1:n.1277T>G | ||
ENST00000646124.2:c.1255T>G MANE Select | ENSP00000496779.1:p.Phe419Val | |
ENST00000646506.1:n.834T>G | ||
ENST00000215739.12:c.1255T>G | ENSP00000215739.8:p.Phe419Val | |
ENST00000479606.5:n.1401T>G | ||
ENST00000492480.1:n.309+2T>G | ||
NM_006767.3:c.1255T>G | NP_006758.2:p.Phe419Val | |
NM_006767.4:c.1255T>G MANE Select | NP_006758.2:p.Phe419Val |