HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63506367A>T , CM000679.2:g.63506367A>T | GRCh38 |
NC_000017.10:g.61583728A>T , CM000679.1:g.61583728A>T | GRCh37 |
NC_000017.9:g.58937460A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000577647.2:c.1970-689A>T | ENSP00000464149.1:n.1970-689A>T |