HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388235A= , CM000665.2:g.190388235A= | GRCh38 |
NC_000003.11:g.190106024A= , CM000665.1:g.190106024A= | GRCh37 |
NC_000003.10:g.191588718A= | NCBI36 |
NG_008149.1:g.5184A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.-95A= MANE Select | ENSP00000264734.3:n.-95A= | |
ENST00000456423.2:c.-95A= | ENSP00000414136.2:n.-95A= | |
ENST00000264734.2:c.116A= | ENSP00000264734.2:p.Gln39= | |
ENST00000456423.1:c.116A= | ENSP00000414136.1:p.Gln39= | |
ENST00000468220.1:n.306+13632A= | ||
NM_006580.3:c.116A= | NP_006571.1:p.Gln39= | |
NM_001378492.1:c.-93-2A= | NP_001365421.1:n.-93-2A= | |
NM_001378493.1:c.-93-2A= | NP_001365422.1:n.-93-2A= | |
NM_006580.4:c.-95A= MANE Select | NP_006571.2:n.-95A= |