HGVS | Genome Assembly |
---|---|
NC_000001.11:g.63593368G>A , CM000663.2:g.63593368G>A | GRCh38 |
NC_000001.10:g.64059039G>A , CM000663.1:g.64059039G>A | GRCh37 |
NC_000001.9:g.63831627G>A | NCBI36 |
NG_016966.1:g.5093G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371084.7:c.-121G>A (PGM1) | ENSP00000360125.3:n.-121G>A | |
ENST00000478138.1:n.197+157C>T (ITGB3BP) | ||
NM_002633.2:c.-121G>A (PGM1) | NP_002624.2:n.-121G>A |