HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372386T>G , CM000679.2:g.44372386T>G | GRCh38 |
NC_000017.10:g.42449754T>G , CM000679.1:g.42449754T>G | GRCh37 |
NC_000017.9:g.39805280T>G | NCBI36 |
NG_008331.1:g.22120A>C , LRG_479:g.22120A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3098A>C MANE Select | ENSP00000262407.5:p.Glu1033Ala | |
ENST00000648408.1:c.2412A>C | ||
ENST00000262407.5:c.3098A>C | ENSP00000262407.5:p.Glu1033Ala | |
ENST00000587295.5:c.291A>C | ||
ENST00000588098.1:c.75A>C | ||
NM_000419.3:c.3098A>C , LRG_479t1:c.3098A>C | NP_000410.2:p.Glu1033Ala | |
XM_011524749.1:c.2996A>C | XP_011523051.1:p.Glu999Ala | |
XM_011524750.1:c.2981A>C | XP_011523052.1:p.Glu994Ala | |
NM_000419.4:c.3098A>C | NP_000410.2:p.Glu1033Ala | |
NM_000419.5:c.3098A>C MANE Select | NP_000410.2:p.Glu1033Ala |