HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665228C>A , CM000679.2:g.39665228C>A | GRCh38 |
NC_000017.10:g.37821481C>A , CM000679.1:g.37821481C>A | GRCh37 |
NC_000017.9:g.35075007C>A | NCBI36 |
NG_008892.1:g.4883C>A , LRG_210:g.4883C>A | |
NG_042278.1:g.2248C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.2:c.-132C>A | ENSP00000312624.2:n.-132C>A |