HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63506363G>A , CM000679.2:g.63506363G>A | GRCh38 |
NC_000017.10:g.61583724G>A , CM000679.1:g.61583724G>A | GRCh37 |
NC_000017.9:g.58937456G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000577647.2:c.1970-693G>A | ENSP00000464149.1:n.1970-693G>A |