HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11310006G>T , CM000678.2:g.11310006G>T | GRCh38 |
NC_000016.9:g.11403863G>T , CM000678.1:g.11403863G>T | GRCh37 |
NC_000016.8:g.11311364G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649869.1:n.152+60228G>T | ||
ENST00000572173.1:c.-436-2823G>T | ENSP00000461206.1:n.-436-2823G>T | |
ENST00000573910.1:n.161-6446G>T | ||
XR_933070.1:n.733+60228G>T | ||
XR_933070.3:n.876+60228G>T |