HGVS | Genome Assembly |
---|---|
NC_000015.10:g.58388755T>C , CM000677.2:g.58388755T>C | GRCh38 |
NC_000015.9:g.58680954T>C , CM000677.1:g.58680954T>C | GRCh37 |
NC_000015.8:g.56468246T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000558239.5:c.-172+31216A>G | ENSP00000453292.1:n.-172+31216A>G | |
ENST00000560863.5:n.415+31216A>G | ||
XR_429537.2:n.164+31216A>G | ||
XR_932289.1:n.165-3899A>G | ||
XR_001751556.2:n.216+31216A>G | ||
XR_001751557.2:n.216+31216A>G | ||
XR_001751558.2:n.216+31216A>G | ||
XR_001751559.2:n.216+31216A>G | ||
XR_001751560.2:n.216+31216A>G | ||
XR_001751563.2:n.216+31216A>G | ||
XR_001751565.2:n.217-259A>G | ||
XR_429537.4:n.216+31216A>G |