HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717984T>C , CM000674.2:g.12717984T>C | GRCh38 |
NC_000012.11:g.12870918T>C , CM000674.1:g.12870918T>C | GRCh37 |
NC_000012.10:g.12762185T>C | NCBI36 |
NG_016341.1:g.5617T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.145T>C | ENSP00000507272.1:p.Cys49Arg | |
ENST00000682620.1:n.1631-841T>C | ||
ENST00000684771.1:n.585-841T>C | ||
ENST00000228872.9:c.145T>C MANE Select | ENSP00000228872.4:p.Cys49Arg | |
ENST00000228872.8:c.145T>C | ENSP00000228872.4:p.Cys49Arg | |
ENST00000396340.1:c.145T>C | ENSP00000379629.1:p.Cys49Arg | |
ENST00000442489.1:c.124T>C | ENSP00000407597.1:p.Cys42Arg | |
ENST00000477087.1:n.155-841T>C | ||
NM_004064.4:c.145T>C | NP_004055.1:p.Cys49Arg | |
NM_004064.5:c.145T>C MANE Select | NP_004055.1:p.Cys49Arg |