HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196996024C>G , CM000663.2:g.196996024C>G | GRCh38 |
NC_000001.10:g.196965154C>G , CM000663.1:g.196965154C>G | GRCh37 |
NC_000001.9:g.195231777C>G | NCBI36 |
NG_016365.1:g.23488C>G , LRG_227:g.23488C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.538C>G | ENSP00000514393.1:p.Gln180Glu | |
ENST00000699467.1:n.862C>G | ||
ENST00000699468.1:c.-24-90C>G | ENSP00000514394.1:n.-24-90C>G | |
ENST00000256785.5:c.793C>G MANE Select | ENSP00000256785.4:p.Gln265Glu | |
ENST00000256785.4:c.793C>G | ENSP00000256785.4:p.Gln265Glu | |
NM_030787.3:c.793C>G , LRG_227t1:c.793C>G | NP_110414.1:p.Gln265Glu | |
XM_011510020.1:c.802C>G | XP_011508322.1:p.Gln268Glu | |
XM_011510020.2:c.802C>G | XP_011508322.1:p.Gln268Glu | |
NM_030787.4:c.793C>G MANE Select | NP_110414.1:p.Gln265Glu |