HGVS | Genome Assembly |
---|---|
NC_000012.12:g.3804269A>G , CM000674.2:g.3804269A>G | GRCh38 |
NC_000012.11:g.3913435A>G , CM000674.1:g.3913435A>G | GRCh37 |
NC_000012.10:g.3783696A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000416739.5:c.*196+2619T>C | ENSP00000392392.1:n.*196+2619T>C |