HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89227850C>A , CM000673.2:g.89227850C>A | GRCh38 |
NC_000011.9:g.88961018C>A , CM000673.1:g.88961018C>A | GRCh37 |
NC_000011.8:g.88600666C>A | NCBI36 |
NG_008748.1:g.54979C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263321.6:c.1064C>A MANE Select | ENSP00000263321.4:p.Ala355Glu | |
ENST00000263321.5:c.1064C>A | ENSP00000263321.4:p.Ala355Glu | |
NM_000372.4:c.1064C>A | NP_000363.1:p.Ala355Glu | |
XM_011542970.1:c.1064C>A | XP_011541272.1:p.Ala355Glu | |
XM_011542970.2:c.1064C>A | XP_011541272.1:p.Ala355Glu | |
XR_001748321.1:n.2717+43610G>T | ||
XR_001748322.1:n.2732+43610G>T | ||
NM_000372.5:c.1064C>A MANE Select | NP_000363.1:p.Ala355Glu |