HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157640T>C , CM000681.2:g.55157640T>C | GRCh38 |
NC_000019.9:g.55669008T>C , CM000681.1:g.55669008T>C | GRCh37 |
NC_000019.8:g.60360820T>C | NCBI36 |
NG_007866.2:g.5093A>G , LRG_432:g.5093A>G | |
NG_032759.1:g.14083A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.-51A>G MANE Select | ENSP00000341838.5:n.-51A>G | |
ENST00000665070.1:c.-51A>G | ENSP00000499482.1:n.-51A>G | |
ENST00000344887.9:c.-51A>G | ENSP00000341838.5:n.-51A>G | |
ENST00000586446.1:n.93A>G | ||
ENST00000587176.5:n.134A>G | ||
ENST00000587871.1:c.570A>G | ||
ENST00000590463.1:n.77A>G | ||
NM_000363.4:c.-51A>G , LRG_432t1:c.-51A>G | NP_000354.4:n.-51A>G | |
NM_000363.5:c.-51A>G MANE Select | NP_000354.4:n.-51A>G |