HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740544A>T , CM000666.2:g.67740544A>T | GRCh38 |
NC_000004.11:g.68606262A>T , CM000666.1:g.68606262A>T | GRCh37 |
NC_000004.10:g.68288857A>T | NCBI36 |
NG_009293.1:g.20543T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.923T>A MANE Select | ENSP00000226413.5:p.Phe308Tyr | |
ENST00000226413.4:c.923T>A | ENSP00000226413.4:p.Phe308Tyr | |
ENST00000420975.2:c.795T>A | ENSP00000397561.2:n.795T>A | |
NM_000406.2:c.923T>A | NP_000397.1:p.Phe308Tyr | |
NM_001012763.1:c.*45T>A | NP_001012781.1:n.*45T>A | |
NM_000406.3:c.923T>A MANE Select | NP_000397.1:p.Phe308Tyr | |
NM_001012763.2:c.*45T>A | NP_001012781.1:n.*45T>A |