HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740516G>T , CM000666.2:g.67740516G>T | GRCh38 |
NC_000004.11:g.68606234G>T , CM000666.1:g.68606234G>T | GRCh37 |
NC_000004.10:g.68288829G>T | NCBI36 |
NG_009293.1:g.20571C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.951C>A MANE Select | ENSP00000226413.5:p.Cys317Ter | |
ENST00000226413.4:c.951C>A | ENSP00000226413.4:p.Cys317Ter | |
ENST00000420975.2:c.823C>A | ENSP00000397561.2:n.823C>A | |
NM_000406.2:c.951C>A | NP_000397.1:p.Cys317Ter | |
NM_001012763.1:c.*73C>A | NP_001012781.1:n.*73C>A | |
NM_000406.3:c.951C>A MANE Select | NP_000397.1:p.Cys317Ter | |
NM_001012763.2:c.*73C>A | NP_001012781.1:n.*73C>A |