HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319203G>A , CM000673.2:g.6319203G>A | GRCh38 |
NC_000011.9:g.6340433G>A , CM000673.1:g.6340433G>A | GRCh37 |
NC_000011.8:g.6297009G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.746C>T MANE Select | ENSP00000307292.3:p.Ala249Val | |
ENST00000303927.3:c.746C>T | ENSP00000307292.3:p.Ala249Val | |
ENST00000524852.1:n.532C>T | ||
ENST00000530979.1:c.842C>T | ENSP00000432047.1:p.Ala281Val | |
ENST00000532354.1:n.768C>T | ||
NM_145040.2:c.746C>T | NP_659477.2:p.Ala249Val | |
XR_930997.1:n.720+983G>A | ||
XR_242848.4:n.63G>A | ||
NM_145040.3:c.746C>T MANE Select | NP_659477.2:p.Ala249Val |