HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110577470A>G , CM000672.2:g.110577470A>G | GRCh38 |
NC_000010.10:g.112337228A>G , CM000672.1:g.112337228A>G | GRCh37 |
NC_000010.9:g.112327218A>G | NCBI36 |
NG_012217.1:g.14780A>G , LRG_774:g.14780A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.381A>G | ||
ENST00000687823.1:n.162A>G | ||
ENST00000689932.1:n.2311A>G | ||
ENST00000691297.1:n.381A>G | ||
ENST00000691527.1:n.338A>G | ||
ENST00000692792.1:n.367A>G | ||
ENST00000361804.5:c.248A>G MANE Select | ENSP00000354720.5:p.Asp83Gly | |
ENST00000361804.4:c.248A>G | ENSP00000354720.4:p.Asp83Gly | |
ENST00000462899.1:n.394A>G | ||
NM_005445.3:c.248A>G , LRG_774t1:c.248A>G | NP_005436.1:p.Asp83Gly | |
NM_005445.4:c.248A>G MANE Select | NP_005436.1:p.Asp83Gly |