HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942887T>G , CM000678.2:g.67942887T>G | GRCh38 |
NC_000016.9:g.67976790T>G , CM000678.1:g.67976790T>G | GRCh37 |
NC_000016.8:g.66534291T>G | NCBI36 |
NG_009778.1:g.6226A>C | |
NG_033098.1:g.30808A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.401A>C MANE Select | ENSP00000264005.5:p.Glu134Ala | |
ENST00000264005.9:c.401A>C | ENSP00000264005.5:p.Glu134Ala | |
ENST00000570369.5:c.129A>C | ||
ENST00000570980.1:c.185A>C | ENSP00000464651.1:p.Glu62Ala | |
ENST00000573538.5:c.44A>C | ENSP00000463220.1:p.Glu15Ala | |
ENST00000573846.1:n.15A>C | ||
ENST00000575277.1:n.179A>C | ||
ENST00000575467.5:c.*96A>C | ENSP00000460653.1:n.*96A>C | |
NM_000229.1:c.401A>C | NP_000220.1:p.Glu134Ala | |
NM_000229.2:c.401A>C MANE Select | NP_000220.1:p.Glu134Ala |