HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041613T>G , CM000674.2:g.56041613T>G | GRCh38 |
NC_000012.11:g.56435397T>G , CM000674.1:g.56435397T>G | GRCh37 |
NC_000012.10:g.54721664T>G | NCBI36 |
NG_023201.1:g.4712T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-356-198T>G | ENSP00000348849.5:n.-356-198T>G | |
XR_944989.1:n.100A>C | ||
XR_944990.1:n.100A>C | ||
XR_944989.3:n.391A>C | ||
XR_944990.3:n.391A>C |