HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152555C>G , CM000677.2:g.80152555C>G | GRCh38 |
NC_000015.9:g.80444897C>G , CM000677.1:g.80444897C>G | GRCh37 |
NC_000015.8:g.78231952C>G | NCBI36 |
NG_012833.1:g.4557C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+10C>G | ENSP00000453152.1:n.-30+10C>G |