HGVS | Genome Assembly |
---|---|
NC_000003.12:g.69119507T>A , CM000665.2:g.69119507T>A | GRCh38 |
NC_000003.11:g.69168658T>A , CM000665.1:g.69168658T>A | GRCh37 |
NC_000003.10:g.69251348T>A | NCBI36 |
NG_041828.1:g.8089A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420581.7:c.848A>T MANE Select | ENSP00000414670.3:p.His283Leu | |
ENST00000420581.6:c.848A>T | ENSP00000414670.2:p.His283Leu | |
ENST00000475434.1:c.848A>T | ENSP00000418645.1:p.His283Leu | |
ENST00000489031.5:c.848A>T | ENSP00000417210.1:p.His283Leu | |
NM_001304418.1:c.848A>T | NP_001291347.1:p.His283Leu | |
NM_198271.4:c.848A>T | NP_938012.2:p.His283Leu | |
NM_001304418.3:c.848A>T | NP_001291347.1:p.His283Leu | |
NM_198271.5:c.848A>T MANE Select | NP_938012.2:p.His283Leu |