HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14139263C>G , CM000665.2:g.14139263C>G | GRCh38 |
NC_000003.11:g.14180763C>G , CM000665.1:g.14180763C>G | GRCh37 |
NC_000003.10:g.14155764C>G | NCBI36 |
NG_008975.1:g.19324C>G , LRG_435:g.19324C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432444.2:c.*996C>G | ENSP00000395617.1:n.*996C>G | |
ENST00000306077.5:c.966C>G MANE Select | ENSP00000303992.5:p.Gly322= | |
ENST00000306077.4:c.966C>G | ENSP00000303992.4:p.Gly322= | |
ENST00000601399.3:n.293C>G | ||
ENST00000608606.1:c.202C>G | ||
NM_024334.2:c.966C>G , LRG_435t1:c.966C>G | NP_077310.1:p.Gly322= | |
XM_011534109.1:c.861C>G | XP_011532411.1:p.Gly287= | |
XM_017007176.2:c.861C>G | XP_016862665.1:p.Gly287= | |
NM_024334.3:c.966C>G MANE Select | NP_077310.1:p.Gly322= |