HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154140C>A , CM000681.2:g.55154140C>A | GRCh38 |
NC_000019.9:g.55665508C>A , CM000681.1:g.55665508C>A | GRCh37 |
NC_000019.8:g.60357320C>A | NCBI36 |
NG_007866.2:g.8593G>T , LRG_432:g.8593G>T | |
NG_011829.2:g.99G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.439G>T MANE Select | ENSP00000341838.5:p.Val147Leu | |
ENST00000665070.1:c.472G>T | ENSP00000499482.1:p.Val158Leu | |
ENST00000344887.9:c.439G>T | ENSP00000341838.5:p.Val147Leu | |
ENST00000585806.5:n.438G>T | ||
ENST00000586669.5:n.447G>T | ||
ENST00000588882.1:c.364G>T | ENSP00000466729.1:p.Val122Leu | |
ENST00000589864.1:n.267G>T | ||
NM_000363.4:c.439G>T , LRG_432t1:c.439G>T | NP_000354.4:p.Val147Leu | |
NM_000363.5:c.439G>T MANE Select | NP_000354.4:p.Val147Leu |