HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196996111G>A , CM000663.2:g.196996111G>A | GRCh38 |
NC_000001.10:g.196965241G>A , CM000663.1:g.196965241G>A | GRCh37 |
NC_000001.9:g.195231864G>A | NCBI36 |
NG_016365.1:g.23575G>A , LRG_227:g.23575G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.625G>A | ENSP00000514393.1:p.Glu209Lys | |
ENST00000699467.1:n.949G>A | ||
ENST00000699468.1:c.-24-3G>A | ENSP00000514394.1:n.-24-3G>A | |
ENST00000256785.5:c.880G>A MANE Select | ENSP00000256785.4:p.Glu294Lys | |
ENST00000256785.4:c.880G>A | ENSP00000256785.4:p.Glu294Lys | |
NM_030787.3:c.880G>A , LRG_227t1:c.880G>A | NP_110414.1:p.Glu294Lys | |
XM_011510020.1:c.889G>A | XP_011508322.1:p.Glu297Lys | |
XM_011510020.2:c.889G>A | XP_011508322.1:p.Glu297Lys | |
NM_030787.4:c.880G>A MANE Select | NP_110414.1:p.Glu294Lys |