HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307268T>A , CM000673.2:g.121307268T>A | GRCh38 |
NC_000011.9:g.121177977T>A , CM000673.1:g.121177977T>A | GRCh37 |
NC_000011.8:g.120683187T>A | NCBI36 |
NG_009446.1:g.19590T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.656T>A MANE Select | ENSP00000264027.4:p.Leu219Ter | |
ENST00000264027.8:c.656T>A | ENSP00000264027.4:p.Leu219Ter | |
ENST00000392789.2:c.656T>A | ENSP00000376539.2:p.Leu219Ter | |
ENST00000527183.1:n.949T>A | ||
ENST00000534230.5:c.631+25T>A | ENSP00000432550.1:n.631+25T>A | |
NM_001024956.2:c.656T>A | NP_001020127.1:p.Leu219Ter | |
NM_006918.4:c.656T>A | NP_008849.2:p.Leu219Ter | |
NM_006918.5:c.656T>A MANE Select | NP_008849.2:p.Leu219Ter | |
NM_001024956.3:c.656T>A | NP_001020127.1:p.Leu219Ter |