HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307266C>A , CM000673.2:g.121307266C>A | GRCh38 |
NC_000011.9:g.121177975C>A , CM000673.1:g.121177975C>A | GRCh37 |
NC_000011.8:g.120683185C>A | NCBI36 |
NG_009446.1:g.19588C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.654C>A MANE Select | ENSP00000264027.4:p.Ile218= | |
ENST00000264027.8:c.654C>A | ENSP00000264027.4:p.Ile218= | |
ENST00000392789.2:c.654C>A | ENSP00000376539.2:p.Ile218= | |
ENST00000527183.1:n.947C>A | ||
ENST00000534230.5:c.631+23C>A | ENSP00000432550.1:n.631+23C>A | |
NM_001024956.2:c.654C>A | NP_001020127.1:p.Ile218= | |
NM_006918.4:c.654C>A | NP_008849.2:p.Ile218= | |
NM_006918.5:c.654C>A MANE Select | NP_008849.2:p.Ile218= | |
NM_001024956.3:c.654C>A | NP_001020127.1:p.Ile218= |