HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868596C>A , CM000673.2:g.65868596C>A | GRCh38 |
NC_000011.9:g.65636067C>A , CM000673.1:g.65636067C>A | GRCh37 |
NC_000011.8:g.65392643C>A | NCBI36 |
NG_012304.2:g.9339G>T | |
NG_053116.1:g.13535C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.761G>T MANE Select | ENSP00000309953.6:p.Cys254Phe | |
ENST00000307998.10:c.761G>T | ENSP00000309953.6:p.Cys254Phe | |
ENST00000526628.5:n.1327G>T | ||
ENST00000527969.1:n.1446G>T | ||
ENST00000528176.5:c.761G>T | ENSP00000434151.1:p.Cys254Phe | |
ENST00000531005.5:n.1755G>T | ||
ENST00000531972.5:c.761G>T | ENSP00000435295.1:p.Cys254Phe | |
ENST00000532084.5:n.187G>T | ||
NM_016938.4:c.761G>T | NP_058634.4:p.Cys254Phe | |
NR_037718.1:n.1020G>T | ||
NM_016938.5:c.761G>T MANE Select | NP_058634.4:p.Cys254Phe | |
NR_037718.2:n.886G>T |