HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413488C>G , CM000665.2:g.147413488C>G | GRCh38 |
NC_000003.11:g.147131275C>G , CM000665.1:g.147131275C>G | GRCh37 |
NC_000003.10:g.148613965C>G | NCBI36 |
NG_015886.1:g.9095C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1281C>G MANE Select | ENSP00000282928.4:p.Ser427= | |
ENST00000282928.4:c.1281C>G | ENSP00000282928.4:p.Ser427= | |
ENST00000472523.1:n.521+19546C>G | ||
ENST00000488404.5:c.347C>G | ||
NM_003412.3:c.1281C>G | NP_003403.2:p.Ser427= | |
NM_003412.4:c.1281C>G MANE Select | NP_003403.2:p.Ser427= |