HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718224C>T , CM000674.2:g.12718224C>T | GRCh38 |
NC_000012.11:g.12871158C>T , CM000674.1:g.12871158C>T | GRCh37 |
NC_000012.10:g.12762425C>T | NCBI36 |
NG_016341.1:g.5857C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.385C>T | ENSP00000507272.1:p.His129Tyr | |
ENST00000682620.1:n.1631-601C>T | ||
ENST00000684771.1:n.585-601C>T | ||
ENST00000228872.9:c.385C>T MANE Select | ENSP00000228872.4:p.His129Tyr | |
ENST00000228872.8:c.385C>T | ENSP00000228872.4:p.His129Tyr | |
ENST00000396340.1:c.385C>T | ENSP00000379629.1:p.His129Tyr | |
ENST00000442489.1:c.193+171C>T | ENSP00000407597.1:n.193+171C>T | |
ENST00000477087.1:n.155-601C>T | ||
NM_004064.4:c.385C>T | NP_004055.1:p.His129Tyr | |
NM_004064.5:c.385C>T MANE Select | NP_004055.1:p.His129Tyr |