HGVS | Genome Assembly |
---|---|
NC_000010.11:g.62848544A>C , CM000672.2:g.62848544A>C | GRCh38 |
NC_000010.10:g.64608304A>C , CM000672.1:g.64608304A>C | GRCh37 |
NC_000010.9:g.64278310A>C | NCBI36 |
NG_008936.2:g.76357T>G , LRG_239:g.76357T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000493899.2:n.542-32575T>G | ||
XM_011539428.1:c.-90-32575T>G | XP_011537730.1:n.-90-32575T>G |