HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11309977C>T , CM000678.2:g.11309977C>T | GRCh38 |
NC_000016.9:g.11403834C>T , CM000678.1:g.11403834C>T | GRCh37 |
NC_000016.8:g.11311335C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649869.1:n.152+60199C>T | ||
ENST00000572173.1:c.-436-2852C>T | ENSP00000461206.1:n.-436-2852C>T | |
ENST00000573910.1:n.161-6475C>T | ||
XR_933070.1:n.733+60199C>T | ||
XR_933070.3:n.876+60199C>T |