HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63506301T>G , CM000679.2:g.63506301T>G | GRCh38 |
NC_000017.10:g.61583662T>G , CM000679.1:g.61583662T>G | GRCh37 |
NC_000017.9:g.58937394T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000577647.2:c.1970-755T>G | ENSP00000464149.1:n.1970-755T>G |