HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718118G>T , CM000674.2:g.12718118G>T | GRCh38 |
NC_000012.11:g.12871052G>T , CM000674.1:g.12871052G>T | GRCh37 |
NC_000012.10:g.12762319G>T | NCBI36 |
NG_016341.1:g.5751G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.279G>T | ENSP00000507272.1:p.Arg93= | |
ENST00000682620.1:n.1631-707G>T | ||
ENST00000684771.1:n.585-707G>T | ||
ENST00000228872.9:c.279G>T MANE Select | ENSP00000228872.4:p.Arg93= | |
ENST00000228872.8:c.279G>T | ENSP00000228872.4:p.Arg93= | |
ENST00000396340.1:c.279G>T | ENSP00000379629.1:p.Arg93= | |
ENST00000442489.1:c.193+65G>T | ENSP00000407597.1:n.193+65G>T | |
ENST00000477087.1:n.155-707G>T | ||
NM_004064.4:c.279G>T | NP_004055.1:p.Arg93= | |
NM_004064.5:c.279G>T MANE Select | NP_004055.1:p.Arg93= |