HGVS | Genome Assembly |
---|---|
NC_000001.11:g.19516860T>C , CM000663.2:g.19516860T>C | GRCh38 |
NC_000001.10:g.19843354T>C , CM000663.1:g.19843354T>C | GRCh37 |
NC_000001.9:g.19715941T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648702.1:c.-54+32205T>C | ENSP00000497006.1:n.-54+32205T>C | |
XR_947017.1:n.372+1223A>G | ||
XR_947019.1:n.189-1261T>C | ||
XR_947020.1:n.144-1261T>C | ||
XR_001737920.1:n.144-1261T>C | ||
XR_947017.2:n.1178+1223A>G | ||
XR_947020.2:n.144-1261T>C |