HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152628A>G , CM000677.2:g.80152628A>G | GRCh38 |
NC_000015.9:g.80444970A>G , CM000677.1:g.80444970A>G | GRCh37 |
NC_000015.8:g.78232025A>G | NCBI36 |
NG_012833.1:g.4630A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+83A>G | ENSP00000453152.1:n.-30+83A>G |