HGVS | Genome Assembly |
---|---|
NC_000007.14:g.80011331T>G , CM000669.2:g.80011331T>G | GRCh38 |
NC_000007.13:g.79640647T>G , CM000669.1:g.79640647T>G | GRCh37 |
NC_000007.12:g.79478583T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649225.1:c.-337+54265T>G | ENSP00000496829.1:n.-337+54265T>G |