HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20991754G>A , CM000684.2:g.20991754G>A | GRCh38 |
NC_000022.10:g.21346043G>A , CM000684.1:g.21346043G>A | GRCh37 |
NC_000022.9:g.19676043G>A | NCBI36 |
NG_034193.1:g.14486G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700578.1:c.918G>A | ENSP00000515073.1:p.Thr306= | |
ENST00000495142.6:n.263G>A | ||
ENST00000642151.1:c.749G>A | ||
ENST00000643578.1:n.940G>A | ||
ENST00000646124.2:c.918G>A MANE Select | ENSP00000496779.1:p.Thr306= | |
ENST00000646506.1:n.497G>A | ||
ENST00000215739.12:c.918G>A | ENSP00000215739.8:p.Thr306= | |
ENST00000461510.1:n.19G>A | ||
ENST00000479606.5:n.1064G>A | ||
ENST00000497716.5:n.745G>A | ||
NM_006767.3:c.918G>A | NP_006758.2:p.Thr306= | |
NM_006767.4:c.918G>A MANE Select | NP_006758.2:p.Thr306= |