HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152615G>A , CM000677.2:g.80152615G>A | GRCh38 |
NC_000015.9:g.80444957G>A , CM000677.1:g.80444957G>A | GRCh37 |
NC_000015.8:g.78232012G>A | NCBI36 |
NG_012833.1:g.4617G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+70G>A | ENSP00000453152.1:n.-30+70G>A |