HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157641T>A , CM000681.2:g.55157641T>A | GRCh38 |
NC_000019.9:g.55669009T>A , CM000681.1:g.55669009T>A | GRCh37 |
NC_000019.8:g.60360821T>A | NCBI36 |
NG_007866.2:g.5092A>T , LRG_432:g.5092A>T | |
NG_032759.1:g.14082A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.-52A>T MANE Select | ENSP00000341838.5:n.-52A>T | |
ENST00000665070.1:c.-52A>T | ENSP00000499482.1:n.-52A>T | |
ENST00000344887.9:c.-52A>T | ENSP00000341838.5:n.-52A>T | |
ENST00000586446.1:n.92A>T | ||
ENST00000587176.5:n.133A>T | ||
ENST00000587871.1:c.569A>T | ||
ENST00000590463.1:n.76A>T | ||
NM_000363.4:c.-52A>T , LRG_432t1:c.-52A>T | NP_000354.4:n.-52A>T | |
NM_000363.5:c.-52A>T MANE Select | NP_000354.4:n.-52A>T |