HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52552726C>T , CM000674.2:g.52552726C>T | GRCh38 |
NC_000012.11:g.52946510C>T , CM000674.1:g.52946510C>T | GRCh37 |
NC_000012.10:g.51232777C>T | NCBI36 |
NG_012426.1:g.5422G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267119.6:c.352G>A MANE Select | ENSP00000267119.5:p.Glu118Lys | |
ENST00000267119.5:c.352G>A | ENSP00000267119.5:p.Glu118Lys | |
NM_033448.2:c.352G>A | NP_258259.1:p.Glu118Lys | |
XM_017018749.1:c.106G>A | XP_016874238.1:p.Glu36Lys | |
NM_033448.3:c.352G>A MANE Select | NP_258259.1:p.Glu118Lys |