HGVS | Genome Assembly |
---|---|
NC_000007.14:g.80011539G>T , CM000669.2:g.80011539G>T | GRCh38 |
NC_000007.13:g.79640855G>T , CM000669.1:g.79640855G>T | GRCh37 |
NC_000007.12:g.79478791G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649225.1:c.-337+54473G>T | ENSP00000496829.1:n.-337+54473G>T |