HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319487G>C , CM000673.2:g.6319487G>C | GRCh38 |
NC_000011.9:g.6340717G>C , CM000673.1:g.6340717G>C | GRCh37 |
NC_000011.8:g.6297293G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.462C>G MANE Select | ENSP00000307292.3:p.Gly154= | |
ENST00000303927.3:c.462C>G | ENSP00000307292.3:p.Gly154= | |
ENST00000524852.1:n.248C>G | ||
ENST00000530979.1:c.558C>G | ENSP00000432047.1:p.Gly186= | |
ENST00000532354.1:n.484C>G | ||
NM_145040.2:c.462C>G | NP_659477.2:p.Gly154= | |
XR_930997.1:n.720+1267G>C | ||
XR_001748106.1:n.98G>C | ||
XR_242848.4:n.347G>C | ||
NM_145040.3:c.462C>G MANE Select | NP_659477.2:p.Gly154= |