HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49061024G>T , CM000681.2:g.49061024G>T | GRCh38 |
NC_000019.9:g.49564281G>T , CM000681.1:g.49564281G>T | GRCh37 |
NC_000019.8:g.54256093G>T | NCBI36 |
NG_016289.1:g.7844C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+731C>A | ENSP00000470689.1:n.243+731C>A | |
XR_001753693.1:n.879+140C>A | ||
XR_001753694.1:n.879+140C>A |