HGVS | Genome Assembly |
---|---|
NC_000001.11:g.19517083C>G , CM000663.2:g.19517083C>G | GRCh38 |
NC_000001.10:g.19843577C>G , CM000663.1:g.19843577C>G | GRCh37 |
NC_000001.9:g.19716164C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648702.1:c.-54+32428C>G | ENSP00000497006.1:n.-54+32428C>G | |
XR_947017.1:n.372+1000G>C | ||
XR_947019.1:n.189-1038C>G | ||
XR_947020.1:n.144-1038C>G | ||
XR_001737920.1:n.144-1038C>G | ||
XR_947017.2:n.1178+1000G>C | ||
XR_947020.2:n.144-1038C>G |