HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740431G>A , CM000666.2:g.67740431G>A | GRCh38 |
NC_000004.11:g.68606149G>A , CM000666.1:g.68606149G>A | GRCh37 |
NC_000004.10:g.68288744G>A | NCBI36 |
NG_009293.1:g.20656C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*49C>T MANE Select | ENSP00000226413.5:n.*49C>T | |
ENST00000226413.4:c.*49C>T | ENSP00000226413.4:n.*49C>T | |
NM_000406.2:c.*49C>T | NP_000397.1:n.*49C>T | |
NM_001012763.1:c.*158C>T | NP_001012781.1:n.*158C>T | |
NM_000406.3:c.*49C>T MANE Select | NP_000397.1:n.*49C>T | |
NM_001012763.2:c.*158C>T | NP_001012781.1:n.*158C>T |