HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740555T>A , CM000666.2:g.67740555T>A | GRCh38 |
NC_000004.11:g.68606273T>A , CM000666.1:g.68606273T>A | GRCh37 |
NC_000004.10:g.68288868T>A | NCBI36 |
NG_009293.1:g.20532A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.912A>T MANE Select | ENSP00000226413.5:p.Val304= | |
ENST00000226413.4:c.912A>T | ENSP00000226413.4:p.Val304= | |
ENST00000420975.2:c.784A>T | ENSP00000397561.2:n.784A>T | |
NM_000406.2:c.912A>T | NP_000397.1:p.Val304= | |
NM_001012763.1:c.*34A>T | NP_001012781.1:n.*34A>T | |
NM_000406.3:c.912A>T MANE Select | NP_000397.1:p.Val304= | |
NM_001012763.2:c.*34A>T | NP_001012781.1:n.*34A>T |