HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319262C>T , CM000673.2:g.6319262C>T | GRCh38 |
NC_000011.9:g.6340492C>T , CM000673.1:g.6340492C>T | GRCh37 |
NC_000011.8:g.6297068C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.687G>A MANE Select | ENSP00000307292.3:p.Glu229= | |
ENST00000303927.3:c.687G>A | ENSP00000307292.3:p.Glu229= | |
ENST00000524852.1:n.473G>A | ||
ENST00000530979.1:c.783G>A | ENSP00000432047.1:p.Glu261= | |
ENST00000532354.1:n.709G>A | ||
NM_145040.2:c.687G>A | NP_659477.2:p.Glu229= | |
XR_930997.1:n.720+1042C>T | ||
XR_242848.4:n.122C>T | ||
NM_145040.3:c.687G>A MANE Select | NP_659477.2:p.Glu229= |