HGVS | Genome Assembly |
---|---|
NC_000007.14:g.24291875C>A , CM000669.2:g.24291875C>A | GRCh38 |
NC_000007.13:g.24331494C>A , CM000669.1:g.24331494C>A | GRCh37 |
NC_000007.12:g.24298019C>A | NCBI36 |
NG_016148.1:g.12688C>A |
HGVS | Amino-acid Change | |
---|---|---|
XM_017012910.1:c.41+27482G>T | XP_016868399.1:n.41+27482G>T | |
XM_017012911.1:c.41+27482G>T | XP_016868400.1:n.41+27482G>T | |
XR_001745121.1:n.473+27482G>T | ||
XR_001745122.1:n.345-94846G>T | ||
XR_001745123.1:n.473+27482G>T | ||
XR_001745124.1:n.473+27482G>T | ||
XR_001745125.1:n.473+27482G>T | ||
XR_001745126.1:n.473+27482G>T | ||
XR_001745127.1:n.345-36176G>T | ||
XR_001745129.1:n.473+27482G>T | ||
XR_001745130.1:n.473+27482G>T | ||
XR_001745131.1:n.473+27482G>T | ||
XR_001745132.1:n.473+27482G>T |