HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11292810A>C , CM000678.2:g.11292810A>C | GRCh38 |
NC_000016.9:g.11386667A>C , CM000678.1:g.11386667A>C | GRCh37 |
NC_000016.8:g.11294168A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649869.1:n.152+43032A>C | ||
ENST00000572173.1:c.-515-2406A>C | ENSP00000461206.1:n.-515-2406A>C | |
ENST00000573910.1:n.161-23642A>C | ||
XR_933070.1:n.733+43032A>C | ||
XR_933070.3:n.876+43032A>C |