HGVS | Genome Assembly |
---|---|
NC_000024.10:g.13161173G>A , CM000686.2:g.13161173G>A | GRCh38 |
NC_000024.9:g.15273084G>A , CM000686.1:g.15273084G>A | GRCh37 |
NC_000024.8:g.13782478G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000439217.1:n.377C>T | ||
ENST00000452645.1:n.1042C>T |