HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14139276A>G , CM000665.2:g.14139276A>G | GRCh38 |
NC_000003.11:g.14180776A>G , CM000665.1:g.14180776A>G | GRCh37 |
NC_000003.10:g.14155777A>G | NCBI36 |
NG_008975.1:g.19337A>G , LRG_435:g.19337A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432444.2:c.*1009A>G | ENSP00000395617.1:n.*1009A>G | |
ENST00000306077.5:c.979A>G MANE Select | ENSP00000303992.5:p.Thr327Ala | |
ENST00000306077.4:c.979A>G | ENSP00000303992.4:p.Thr327Ala | |
ENST00000601399.3:n.306A>G | ||
ENST00000608606.1:c.215A>G | ||
NM_024334.2:c.979A>G , LRG_435t1:c.979A>G | NP_077310.1:p.Thr327Ala | |
XM_011534109.1:c.874A>G | XP_011532411.1:p.Thr292Ala | |
XM_017007176.2:c.874A>G | XP_016862665.1:p.Thr292Ala | |
NM_024334.3:c.979A>G MANE Select | NP_077310.1:p.Thr327Ala |