HGVS | Genome Assembly |
---|---|
NC_000012.12:g.3804244T>C , CM000674.2:g.3804244T>C | GRCh38 |
NC_000012.11:g.3913410T>C , CM000674.1:g.3913410T>C | GRCh37 |
NC_000012.10:g.3783671T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000416739.5:c.*196+2644A>G | ENSP00000392392.1:n.*196+2644A>G |