HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413363T>G , CM000665.2:g.147413363T>G | GRCh38 |
NC_000003.11:g.147131150T>G , CM000665.1:g.147131150T>G | GRCh37 |
NC_000003.10:g.148613840T>G | NCBI36 |
NG_015886.1:g.8970T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1156T>G MANE Select | ENSP00000282928.4:p.Ser386Ala | |
ENST00000282928.4:c.1156T>G | ENSP00000282928.4:p.Ser386Ala | |
ENST00000472523.1:n.521+19421T>G | ||
ENST00000488404.5:c.222T>G | ||
NM_003412.3:c.1156T>G | NP_003403.2:p.Ser386Ala | |
NM_003412.4:c.1156T>G MANE Select | NP_003403.2:p.Ser386Ala |