HGVS | Genome Assembly |
---|---|
NC_000024.10:g.7791674A>T , CM000686.2:g.7791674A>T | GRCh38 |
NC_000024.9:g.7659715A>T , CM000686.1:g.7659715A>T | GRCh37 |
NC_000024.8:g.7719715A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651261.1:n.115-14970T>A | ||
ENST00000652723.1:n.1026+13821T>A | ||
ENST00000442584.2:n.218+13821T>A | ||
XR_001756056.1:n.822-12160T>A |