HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152568G>C , CM000677.2:g.80152568G>C | GRCh38 |
NC_000015.9:g.80444910G>C , CM000677.1:g.80444910G>C | GRCh37 |
NC_000015.8:g.78231965G>C | NCBI36 |
NG_012833.1:g.4570G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+23G>C | ENSP00000453152.1:n.-30+23G>C |