HGVS | Genome Assembly |
---|---|
NC_000007.14:g.80011397A>G , CM000669.2:g.80011397A>G | GRCh38 |
NC_000007.13:g.79640713A>G , CM000669.1:g.79640713A>G | GRCh37 |
NC_000007.12:g.79478649A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649225.1:c.-337+54331A>G | ENSP00000496829.1:n.-337+54331A>G |