HGVS | Genome Assembly |
---|---|
NC_000005.10:g.77035624G>A , CM000667.2:g.77035624G>A | GRCh38 |
NC_000005.9:g.76331449G>A , CM000667.1:g.76331449G>A | GRCh37 |
NC_000005.8:g.76367205G>A | NCBI36 |
NG_027822.1:g.10240G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000312916.12:c.397G>A MANE Select | ENSP00000316109.7:p.Glu133Lys | |
ENST00000646704.1:c.262G>A | ENSP00000495089.1:p.Glu88Lys | |
ENST00000312916.11:c.397G>A | ENSP00000316109.7:p.Glu133Lys | |
ENST00000502408.1:c.385G>A | ||
ENST00000503538.5:n.414G>A | ||
ENST00000506806.1:c.397G>A | ENSP00000424733.1:p.Glu133Lys | |
NM_018046.4:c.397G>A | NP_060516.2:p.Glu133Lys | |
NM_018046.5:c.397G>A MANE Select | NP_060516.2:p.Glu133Lys |