HGVS | Genome Assembly |
---|---|
NC_000011.10:g.117832069A= , CM000673.2:g.117832069A= | GRCh38 |
NC_000011.9:g.117702784A= , CM000673.1:g.117702784A= | GRCh37 |
NC_000011.8:g.117207994A= | NCBI36 |
NG_011543.1:g.1024T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000532984.1:c.272+7712T= | ENSP00000463024.1:n.272+7712T= | |
ENST00000614497.5:c.259+7712T= | ENSP00000482442.1:n.259+7712T= | |
NM_001204268.1:c.259+7712T= | NP_001191197.1:n.259+7712T= | |
NM_001243598.2:c.272+7712T= | NP_001230527.1:n.272+7712T= | |
NM_001204268.2:c.259+7712T= | NP_001191197.1:n.259+7712T= | |
NM_001243598.3:c.272+7712T= | NP_001230527.1:n.272+7712T= | |
NM_001204268.3:c.259+7712T= | NP_001191197.1:n.259+7712T= | |
NM_001243598.4:c.272+7712T= | NP_001230527.1:n.272+7712T= |