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