HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50856927T>A , CM000676.2:g.50856927T>A | GRCh38 |
NC_000014.8:g.51323645T>A , CM000676.1:g.51323645T>A | GRCh37 |
NC_000014.7:g.50393395T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
XR_943848.1:n.282+1171A>T | ||
XR_943848.2:n.643+1171A>T |