HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154526G>T , CM000668.2:g.3154526G>T | GRCh38 |
NC_000006.11:g.3154760G>T , CM000668.1:g.3154760G>T | GRCh37 |
NC_000006.10:g.3099759G>T | NCBI36 |
NG_042223.1:g.8024C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.675C>A MANE Select | ENSP00000369703.2:p.Leu225= | |
ENST00000679400.1:n.731C>A | ||
ENST00000679907.1:n.1063C>A | ||
ENST00000680036.1:n.1457C>A | ||
ENST00000680967.1:n.1765C>A | ||
ENST00000333628.3:c.675C>A | ENSP00000369703.2:p.Leu225= | |
NM_001069.2:c.675C>A | NP_001060.1:p.Leu225= | |
NM_001310315.1:c.420C>A | NP_001297244.1:p.Leu140= | |
NM_001069.3:c.675C>A MANE Select | NP_001060.1:p.Leu225= | |
NM_001310315.2:c.420C>A | NP_001297244.1:p.Leu140= |