HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157105G>C , CM000681.2:g.55157105G>C | GRCh38 |
NC_000019.9:g.55668473G>C , CM000681.1:g.55668473G>C | GRCh37 |
NC_000019.8:g.60360285G>C | NCBI36 |
NG_007866.2:g.5628C>G , LRG_432:g.5628C>G | |
NG_032759.1:g.14618C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.53C>G MANE Select | ENSP00000341838.5:p.Pro18Arg | |
ENST00000665070.1:c.53C>G | ENSP00000499482.1:p.Pro18Arg | |
ENST00000344887.9:c.53C>G | ENSP00000341838.5:p.Pro18Arg | |
ENST00000586446.1:n.195C>G | ||
ENST00000586669.5:n.61C>G | ||
ENST00000587176.5:n.237C>G | ||
ENST00000587871.1:c.672C>G | ||
ENST00000590463.1:n.225C>G | ||
NM_000363.4:c.53C>G , LRG_432t1:c.53C>G | NP_000354.4:p.Pro18Arg | |
NM_000363.5:c.53C>G MANE Select | NP_000354.4:p.Pro18Arg |