HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152575A>C , CM000677.2:g.80152575A>C | GRCh38 |
NC_000015.9:g.80444917A>C , CM000677.1:g.80444917A>C | GRCh37 |
NC_000015.8:g.78231972A>C | NCBI36 |
NG_012833.1:g.4577A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+30A>C | ENSP00000453152.1:n.-30+30A>C |