HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157604C>A , CM000681.2:g.55157604C>A | GRCh38 |
NC_000019.9:g.55668972C>A , CM000681.1:g.55668972C>A | GRCh37 |
NC_000019.8:g.60360784C>A | NCBI36 |
NG_007866.2:g.5129G>T , LRG_432:g.5129G>T | |
NG_032759.1:g.14119G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.-15G>T MANE Select | ENSP00000341838.5:n.-15G>T | |
ENST00000665070.1:c.-15G>T | ENSP00000499482.1:n.-15G>T | |
ENST00000344887.9:c.-15G>T | ENSP00000341838.5:n.-15G>T | |
ENST00000586446.1:n.129G>T | ||
ENST00000587176.5:n.170G>T | ||
ENST00000587871.1:c.606G>T | ||
ENST00000590463.1:n.113G>T | ||
NM_000363.4:c.-15G>T , LRG_432t1:c.-15G>T | NP_000354.4:n.-15G>T | |
NM_000363.5:c.-15G>T MANE Select | NP_000354.4:n.-15G>T |