HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66240115C>A , CM000679.2:g.66240115C>A | GRCh38 |
NC_000017.10:g.64236233C>A , CM000679.1:g.64236233C>A | GRCh37 |
NC_000017.9:g.61666695C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000577982.1:c.-43-10693G>T | ENSP00000464301.1:n.-43-10693G>T |