HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50856928G>A , CM000676.2:g.50856928G>A | GRCh38 |
NC_000014.8:g.51323646G>A , CM000676.1:g.51323646G>A | GRCh37 |
NC_000014.7:g.50393396G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
XR_943848.1:n.282+1170C>T | ||
XR_943848.2:n.643+1170C>T |