HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665345G>C , CM000679.2:g.39665345G>C | GRCh38 |
NC_000017.10:g.37821598G>C , CM000679.1:g.37821598G>C | GRCh37 |
NC_000017.9:g.35075124G>C | NCBI36 |
NG_008892.1:g.5000G>C , LRG_210:g.5000G>C | |
NG_042278.1:g.2365G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.2:c.-15G>C | ENSP00000312624.2:n.-15G>C |