HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388236G= , CM000665.2:g.190388236G= | GRCh38 |
NC_000003.11:g.190106025G= , CM000665.1:g.190106025G= | GRCh37 |
NC_000003.10:g.191588719G= | NCBI36 |
NG_008149.1:g.5185G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264734.3:c.-94G= MANE Select | ENSP00000264734.3:n.-94G= | |
ENST00000456423.2:c.-94G= | ENSP00000414136.2:n.-94G= | |
ENST00000264734.2:c.117G= | ENSP00000264734.2:p.Gln39= | |
ENST00000456423.1:c.117G= | ENSP00000414136.1:p.Gln39= | |
ENST00000468220.1:n.306+13633G= | ||
NM_006580.3:c.117G= | NP_006571.1:p.Gln39= | |
NM_001378492.1:c.-93-1G= | NP_001365421.1:n.-93-1G= | |
NM_001378493.1:c.-93-1G= | NP_001365422.1:n.-93-1G= | |
NM_006580.4:c.-94G= MANE Select | NP_006571.2:n.-94G= |