HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995772G= , CM000663.2:g.196995772G= | GRCh38 |
NC_000001.10:g.196964902G= , CM000663.1:g.196964902G= | GRCh37 |
NC_000001.9:g.195231525G= | NCBI36 |
NG_016365.1:g.23236G= , LRG_227:g.23236G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.408G= | ENSP00000514393.1:p.Glu136= | |
ENST00000699467.1:n.732G= | ||
ENST00000699468.1:c.-24-342G= | ENSP00000514394.1:n.-24-342G= | |
ENST00000256785.5:c.663G= MANE Select | ENSP00000256785.4:p.Glu221= | |
ENST00000256785.4:c.663G= | ENSP00000256785.4:p.Glu221= | |
NM_030787.3:c.663G= , LRG_227t1:c.663G= | NP_110414.1:p.Glu221= | |
XM_011510020.1:c.672G= | XP_011508322.1:p.Glu224= | |
XM_011510020.2:c.672G= | XP_011508322.1:p.Glu224= | |
NM_030787.4:c.663G= MANE Select | NP_110414.1:p.Glu221= |