HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665216C>A , CM000679.2:g.39665216C>A | GRCh38 |
NC_000017.10:g.37821469C>A , CM000679.1:g.37821469C>A | GRCh37 |
NC_000017.9:g.35074995C>A | NCBI36 |
NG_008892.1:g.4871C>A , LRG_210:g.4871C>A | |
NG_042278.1:g.2236C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.2:c.-144C>A | ENSP00000312624.2:n.-144C>A |