HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110589959A>G , CM000672.2:g.110589959A>G | GRCh38 |
NC_000010.10:g.112349717A>G , CM000672.1:g.112349717A>G | GRCh37 |
NC_000010.9:g.112339707A>G | NCBI36 |
NG_012217.1:g.27269A>G , LRG_774:g.27269A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684797.1:n.1377A>G | ||
ENST00000684988.1:n.2122A>G | ||
ENST00000687823.1:n.1391A>G | ||
ENST00000689932.1:n.3540A>G | ||
ENST00000691297.1:n.1610A>G | ||
ENST00000691527.1:n.2280A>G | ||
ENST00000692792.1:n.1596A>G | ||
ENST00000361804.5:c.1477A>G MANE Select | ENSP00000354720.5:p.Lys493Glu | |
ENST00000361804.4:c.1477A>G | ENSP00000354720.4:p.Lys493Glu | |
NM_005445.3:c.1477A>G , LRG_774t1:c.1477A>G | NP_005436.1:p.Lys493Glu | |
NM_005445.4:c.1477A>G MANE Select | NP_005436.1:p.Lys493Glu |