HGVS | Genome Assembly |
---|---|
NC_000024.10:g.8556029C>A , CM000686.2:g.8556029C>A | GRCh38 |
NC_000024.9:g.8424070C>A , CM000686.1:g.8424070C>A | GRCh37 |
NC_000024.8:g.8484070C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000624593.1:c.*23-6234G>T | ENSP00000485106.1:n.*23-6234G>T |