HGVS | Genome Assembly |
---|---|
NC_000012.12:g.40197315A>G , CM000674.2:g.40197315A>G | GRCh38 |
NC_000012.11:g.40591117A>G , CM000674.1:g.40591117A>G | GRCh37 |
NC_000012.10:g.38877384A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000416796.5:c.-63+542A>G | ENSP00000398726.1:n.-63+542A>G |