HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740410T>A , CM000666.2:g.67740410T>A | GRCh38 |
NC_000004.11:g.68606128T>A , CM000666.1:g.68606128T>A | GRCh37 |
NC_000004.10:g.68288723T>A | NCBI36 |
NG_009293.1:g.20677A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*70A>T MANE Select | ENSP00000226413.5:n.*70A>T | |
ENST00000226413.4:c.*70A>T | ENSP00000226413.4:n.*70A>T | |
NM_000406.2:c.*70A>T | NP_000397.1:n.*70A>T | |
NM_001012763.1:c.*179A>T | NP_001012781.1:n.*179A>T | |
NM_000406.3:c.*70A>T MANE Select | NP_000397.1:n.*70A>T | |
NM_001012763.2:c.*179A>T | NP_001012781.1:n.*179A>T |