HGVS | Genome Assembly |
---|---|
NC_000010.11:g.45058281G>A , CM000672.2:g.45058281G>A | GRCh38 |
NC_000010.10:g.45553729G>A , CM000672.1:g.45553729G>A | GRCh37 |
NC_000010.9:g.44873735G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000456938.6:n.411+7246C>T | ||
ENST00000598522.5:n.764+7246C>T | ||
XR_945918.1:n.91-6252G>A |