HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652201C>T , CM000663.2:g.171652201C>T | GRCh38 |
NC_000001.10:g.171621341C>T , CM000663.1:g.171621341C>T | GRCh37 |
NC_000001.9:g.169887964C>T | NCBI36 |
NG_008859.1:g.5433G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.411G>A MANE Select | ENSP00000037502.5:p.Glu137= | |
ENST00000638471.1:c.130+281G>A | ENSP00000491206.1:n.130+281G>A | |
ENST00000037502.10:c.411G>A | ENSP00000037502.5:p.Glu137= | |
ENST00000614688.1:c.411G>A | ENSP00000478680.1:p.Glu137= | |
NM_000261.1:c.411G>A | NP_000252.1:p.Glu137= | |
NM_000261.2:c.411G>A MANE Select | NP_000252.1:p.Glu137= |