HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154643G>A , CM000681.2:g.55154643G>A | GRCh38 |
NC_000019.9:g.55666011G>A , CM000681.1:g.55666011G>A | GRCh37 |
NC_000019.8:g.60357823G>A | NCBI36 |
NG_007866.2:g.8090C>T , LRG_432:g.8090C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.372+98C>T MANE Select | ENSP00000341838.5:n.372+98C>T | |
ENST00000665070.1:c.405+65C>T | ENSP00000499482.1:n.405+65C>T | |
ENST00000344887.9:c.372+98C>T | ENSP00000341838.5:n.372+98C>T | |
ENST00000585806.5:n.371+98C>T | ||
ENST00000586669.5:n.380+98C>T | ||
ENST00000587176.5:n.654C>T | ||
ENST00000588882.1:c.297+98C>T | ENSP00000466729.1:n.297+98C>T | |
NM_000363.4:c.372+98C>T , LRG_432t1:c.372+98C>T | NP_000354.4:n.372+98C>T | |
NM_000363.5:c.372+98C>T MANE Select | NP_000354.4:n.372+98C>T |