HGVS | Genome Assembly |
---|---|
NC_000022.11:g.21772875C>T , CM000684.2:g.21772875C>T | GRCh38 |
NC_000022.10:g.22127164C>T , CM000684.1:g.22127164C>T | GRCh37 |
NC_000022.9:g.20457164C>T | NCBI36 |
NG_023054.2:g.99806G>A , LRG_786:g.99806G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215832.11:c.964G>A MANE Select | ENSP00000215832.7:p.Glu322Lys | |
ENST00000215832.10:c.964G>A | ENSP00000215832.6:p.Glu322Lys | |
ENST00000398822.7:c.964G>A | ENSP00000381803.3:p.Glu322Lys | |
ENST00000544786.1:c.832G>A | ENSP00000440842.1:p.Glu278Lys | |
NM_002745.4:c.964G>A , LRG_786t1:c.964G>A | NP_002736.3:p.Glu322Lys | |
NM_138957.3:c.964G>A , LRG_786t2:c.964G>A | NP_620407.1:p.Glu322Lys | |
NM_002745.5:c.964G>A MANE Select | NP_002736.3:p.Glu322Lys |