HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995719C>G , CM000663.2:g.196995719C>G | GRCh38 |
NC_000001.10:g.196964849C>G , CM000663.1:g.196964849C>G | GRCh37 |
NC_000001.9:g.195231472C>G | NCBI36 |
NG_016365.1:g.23183C>G , LRG_227:g.23183C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.355C>G | ENSP00000514393.1:p.Gln119Glu | |
ENST00000699467.1:n.679C>G | ||
ENST00000699468.1:c.-24-395C>G | ENSP00000514394.1:n.-24-395C>G | |
ENST00000256785.5:c.610C>G MANE Select | ENSP00000256785.4:p.Gln204Glu | |
ENST00000256785.4:c.610C>G | ENSP00000256785.4:p.Gln204Glu | |
NM_030787.3:c.610C>G , LRG_227t1:c.610C>G | NP_110414.1:p.Gln204Glu | |
XM_011510020.1:c.619C>G | XP_011508322.1:p.Gln207Glu | |
XM_011510020.2:c.619C>G | XP_011508322.1:p.Gln207Glu | |
NM_030787.4:c.610C>G MANE Select | NP_110414.1:p.Gln204Glu |