HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413688A>G , CM000665.2:g.147413688A>G | GRCh38 |
NC_000003.11:g.147131475A>G , CM000665.1:g.147131475A>G | GRCh37 |
NC_000003.10:g.148614165A>G | NCBI36 |
NG_015886.1:g.9295A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.*137A>G MANE Select | ENSP00000282928.4:n.*137A>G | |
ENST00000282928.4:c.*137A>G | ENSP00000282928.4:n.*137A>G | |
ENST00000472523.1:n.521+19746A>G | ||
NM_003412.3:c.*137A>G | NP_003403.2:n.*137A>G | |
NM_003412.4:c.*137A>G MANE Select | NP_003403.2:n.*137A>G |