HGVS | Genome Assembly |
---|---|
NC_000019.10:g.21483408C>A , CM000681.2:g.21483408C>A | GRCh38 |
NC_000019.9:g.21666210C>A , CM000681.1:g.21666210C>A | GRCh37 |
NC_000019.8:g.21458050C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600810.1:c.197-6257C>A | ENSP00000473166.1:n.197-6257C>A |