HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157643G>A , CM000681.2:g.55157643G>A | GRCh38 |
NC_000019.9:g.55669011G>A , CM000681.1:g.55669011G>A | GRCh37 |
NC_000019.8:g.60360823G>A | NCBI36 |
NG_007866.2:g.5090C>T , LRG_432:g.5090C>T | |
NG_032759.1:g.14080C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.-54C>T MANE Select | ENSP00000341838.5:n.-54C>T | |
ENST00000665070.1:c.-54C>T | ENSP00000499482.1:n.-54C>T | |
ENST00000344887.9:c.-54C>T | ENSP00000341838.5:n.-54C>T | |
ENST00000586446.1:n.90C>T | ||
ENST00000587176.5:n.131C>T | ||
ENST00000587871.1:c.567C>T | ||
ENST00000590463.1:n.74C>T | ||
NM_000363.4:c.-54C>T , LRG_432t1:c.-54C>T | NP_000354.4:n.-54C>T | |
NM_000363.5:c.-54C>T MANE Select | NP_000354.4:n.-54C>T |