HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811500C>G , CM000677.2:g.71811500C>G | GRCh38 |
NC_000015.9:g.72103840C>G , CM000677.1:g.72103840C>G | GRCh37 |
NC_000015.8:g.69890894C>G | NCBI36 |
NG_009113.2:g.5946C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617575.5:c.136C>G MANE Select | ENSP00000482504.1:p.Gln46Glu | |
ENST00000617575.4:c.136C>G | ENSP00000482504.1:p.Gln46Glu | |
ENST00000621098.1:c.136C>G | ENSP00000479962.1:p.Gln46Glu | |
ENST00000621736.4:c.-129C>G | ENSP00000479254.1:n.-129C>G | |
NM_014249.3:c.136C>G | NP_055064.1:p.Gln46Glu | |
NM_016346.3:c.136C>G | NP_057430.1:p.Gln46Glu | |
XM_011521146.1:c.-129C>G | XP_011519448.1:n.-129C>G | |
NM_014249.4:c.136C>G MANE Select | NP_055064.1:p.Gln46Glu | |
NM_016346.4:c.136C>G | NP_057430.1:p.Gln46Glu |