HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872522C>T , CM000673.2:g.124872522C>T | GRCh38 |
NC_000011.9:g.124742418C>T , CM000673.1:g.124742418C>T | GRCh37 |
NC_000011.8:g.124247628C>T | NCBI36 |
NG_016214.1:g.12114C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1300C>T MANE Select | ENSP00000380903.1:p.Leu434= | |
ENST00000397801.5:c.1300C>T | ENSP00000380903.1:p.Leu434= | |
ENST00000538940.5:c.1234C>T | ENSP00000441797.1:p.Leu412= | |
NM_022370.3:c.1300C>T | NP_071765.2:p.Leu434= | |
XM_011542953.1:c.2272C>T | XP_011541255.1:p.Leu758= | |
XM_017018122.1:c.1234C>T | XP_016873611.1:p.Leu412= | |
NM_022370.4:c.1300C>T MANE Select | NP_071765.2:p.Leu434= |