HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740521G>A , CM000666.2:g.67740521G>A | GRCh38 |
NC_000004.11:g.68606239G>A , CM000666.1:g.68606239G>A | GRCh37 |
NC_000004.10:g.68288834G>A | NCBI36 |
NG_009293.1:g.20566C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.946C>T MANE Select | ENSP00000226413.5:p.Pro316Ser | |
ENST00000226413.4:c.946C>T | ENSP00000226413.4:p.Pro316Ser | |
ENST00000420975.2:c.818C>T | ENSP00000397561.2:n.818C>T | |
NM_000406.2:c.946C>T | NP_000397.1:p.Pro316Ser | |
NM_001012763.1:c.*68C>T | NP_001012781.1:n.*68C>T | |
NM_000406.3:c.946C>T MANE Select | NP_000397.1:p.Pro316Ser | |
NM_001012763.2:c.*68C>T | NP_001012781.1:n.*68C>T |