HGVS | Genome Assembly |
---|---|
NC_000019.10:g.8404489T>G , CM000681.2:g.8404489T>G | GRCh38 |
NC_000019.9:g.8469373T>G , CM000681.1:g.8469373T>G | GRCh37 |
NC_000019.8:g.8375373T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351593.9:c.-88+40517A>C | ENSP00000264073.6:n.-88+40517A>C |