HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7648834C>A , CM000679.2:g.7648834C>A | GRCh38 |
NC_000017.10:g.7552152C>A , CM000679.1:g.7552152C>A | GRCh37 |
NC_000017.9:g.7492877C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000577026.5:c.-6+2133C>A | ENSP00000459145.1:n.-6+2133C>A | |
NM_001303263.1:c.-6+2133C>A | NP_001290192.1:n.-6+2133C>A | |
NM_001303263.2:c.-6+2133C>A | NP_001290192.1:n.-6+2133C>A |