HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154433G>T , CM000681.2:g.55154433G>T | GRCh38 |
NC_000019.9:g.55665801G>T , CM000681.1:g.55665801G>T | GRCh37 |
NC_000019.8:g.60357613G>T | NCBI36 |
NG_007866.2:g.8300C>A , LRG_432:g.8300C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.373-227C>A MANE Select | ENSP00000341838.5:n.373-227C>A | |
ENST00000665070.1:c.406-227C>A | ENSP00000499482.1:n.406-227C>A | |
ENST00000344887.9:c.373-227C>A | ENSP00000341838.5:n.373-227C>A | |
ENST00000585806.5:n.372-227C>A | ||
ENST00000586669.5:n.381-227C>A | ||
ENST00000587176.5:n.864C>A | ||
ENST00000588882.1:c.298-227C>A | ENSP00000466729.1:n.298-227C>A | |
NM_000363.4:c.373-227C>A , LRG_432t1:c.373-227C>A | NP_000354.4:n.373-227C>A | |
NM_000363.5:c.373-227C>A MANE Select | NP_000354.4:n.373-227C>A |