HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6656544G>A , CM000679.2:g.6656544G>A | GRCh38 |
NC_000017.10:g.6559863G>A , CM000679.1:g.6559863G>A | GRCh37 |
NC_000017.9:g.6500587G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000634977.1:n.431+3950G>A | ||
ENST00000635042.1:n.724+3950G>A |