HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745535G>A , CM000665.2:g.8745535G>A | GRCh38 |
NC_000003.11:g.8787221G>A , CM000665.1:g.8787221G>A | GRCh37 |
NC_000003.10:g.8762221G>A | NCBI36 |
NG_008797.2:g.16726G>A , LRG_329:g.16726G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343849.3:c.124G>A MANE Select | ENSP00000341940.2:p.Glu42Lys | |
ENST00000343849.2:c.124G>A | ENSP00000341940.2:p.Glu42Lys | |
ENST00000397368.2:c.124G>A | ENSP00000380525.2:p.Glu42Lys | |
ENST00000472766.1:n.155+11545G>A | ||
NM_001234.4:c.124G>A | NP_001225.1:p.Glu42Lys | |
NM_033337.2:c.124G>A , LRG_329t1:c.124G>A | NP_203123.1:p.Glu42Lys | |
NM_001234.5:c.124G>A | NP_001225.1:p.Glu42Lys | |
NM_033337.3:c.124G>A MANE Select | NP_203123.1:p.Glu42Lys |