HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196996034C>G , CM000663.2:g.196996034C>G | GRCh38 |
NC_000001.10:g.196965164C>G , CM000663.1:g.196965164C>G | GRCh37 |
NC_000001.9:g.195231787C>G | NCBI36 |
NG_016365.1:g.23498C>G , LRG_227:g.23498C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.548C>G | ENSP00000514393.1:p.Thr183Arg | |
ENST00000699467.1:n.872C>G | ||
ENST00000699468.1:c.-24-80C>G | ENSP00000514394.1:n.-24-80C>G | |
ENST00000256785.5:c.803C>G MANE Select | ENSP00000256785.4:p.Thr268Arg | |
ENST00000256785.4:c.803C>G | ENSP00000256785.4:p.Thr268Arg | |
NM_030787.3:c.803C>G , LRG_227t1:c.803C>G | NP_110414.1:p.Thr268Arg | |
XM_011510020.1:c.812C>G | XP_011508322.1:p.Thr271Arg | |
XM_011510020.2:c.812C>G | XP_011508322.1:p.Thr271Arg | |
NM_030787.4:c.803C>G MANE Select | NP_110414.1:p.Thr268Arg |