HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63498397G>C , CM000679.2:g.63498397G>C | GRCh38 |
NC_000017.10:g.61575758G>C , CM000679.1:g.61575758G>C | GRCh37 |
NC_000017.9:g.58929490G>C | NCBI36 |
NG_011648.1:g.26325G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000577647.2:c.1969+1412G>C | ENSP00000464149.1:n.1969+1412G>C |