HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740193C>T , CM000666.2:g.67740193C>T | GRCh38 |
NC_000004.11:g.68605911C>T , CM000666.1:g.68605911C>T | GRCh37 |
NC_000004.10:g.68288506C>T | NCBI36 |
NG_009293.1:g.20894G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*287G>A MANE Select | ENSP00000226413.5:n.*287G>A | |
ENST00000226413.4:c.*287G>A | ENSP00000226413.4:n.*287G>A | |
NM_000406.2:c.*287G>A | NP_000397.1:n.*287G>A | |
NM_001012763.1:c.*396G>A | NP_001012781.1:n.*396G>A | |
NM_000406.3:c.*287G>A MANE Select | NP_000397.1:n.*287G>A | |
NM_001012763.2:c.*396G>A | NP_001012781.1:n.*396G>A |