HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413374G>A , CM000665.2:g.147413374G>A | GRCh38 |
NC_000003.11:g.147131161G>A , CM000665.1:g.147131161G>A | GRCh37 |
NC_000003.10:g.148613851G>A | NCBI36 |
NG_015886.1:g.8981G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1167G>A MANE Select | ENSP00000282928.4:p.Gln389= | |
ENST00000282928.4:c.1167G>A | ENSP00000282928.4:p.Gln389= | |
ENST00000472523.1:n.521+19432G>A | ||
ENST00000488404.5:c.233G>A | ||
NM_003412.3:c.1167G>A | NP_003403.2:p.Gln389= | |
NM_003412.4:c.1167G>A MANE Select | NP_003403.2:p.Gln389= |