HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157010T>C , CM000681.2:g.55157010T>C | GRCh38 |
NC_000019.9:g.55668378T>C , CM000681.1:g.55668378T>C | GRCh37 |
NC_000019.8:g.60360190T>C | NCBI36 |
NG_007866.2:g.5723A>G , LRG_432:g.5723A>G | |
NG_032759.1:g.14713A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.108+40A>G MANE Select | ENSP00000341838.5:n.108+40A>G | |
ENST00000665070.1:c.108+40A>G | ENSP00000499482.1:n.108+40A>G | |
ENST00000344887.9:c.108+40A>G | ENSP00000341838.5:n.108+40A>G | |
ENST00000586446.1:n.290A>G | ||
ENST00000586669.5:n.116+40A>G | ||
ENST00000587176.5:n.292+40A>G | ||
ENST00000587871.1:c.727+40A>G | ||
ENST00000590463.1:n.280+40A>G | ||
NM_000363.4:c.108+40A>G , LRG_432t1:c.108+40A>G | NP_000354.4:n.108+40A>G | |
NM_000363.5:c.108+40A>G MANE Select | NP_000354.4:n.108+40A>G |