HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372390C>A , CM000679.2:g.44372390C>A | GRCh38 |
NC_000017.10:g.42449758C>A , CM000679.1:g.42449758C>A | GRCh37 |
NC_000017.9:g.39805284C>A | NCBI36 |
NG_008331.1:g.22116G>T , LRG_479:g.22116G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3094G>T MANE Select | ENSP00000262407.5:p.Glu1032Ter | |
ENST00000648408.1:c.2408G>T | ||
ENST00000262407.5:c.3094G>T | ENSP00000262407.5:p.Glu1032Ter | |
ENST00000587295.5:c.287G>T | ||
ENST00000588098.1:c.71G>T | ||
NM_000419.3:c.3094G>T , LRG_479t1:c.3094G>T | NP_000410.2:p.Glu1032Ter | |
XM_011524749.1:c.2992G>T | XP_011523051.1:p.Glu998Ter | |
XM_011524750.1:c.2977G>T | XP_011523052.1:p.Glu993Ter | |
NM_000419.4:c.3094G>T | NP_000410.2:p.Glu1032Ter | |
NM_000419.5:c.3094G>T MANE Select | NP_000410.2:p.Glu1032Ter |