HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665341G>C , CM000679.2:g.39665341G>C | GRCh38 |
NC_000017.10:g.37821594G>C , CM000679.1:g.37821594G>C | GRCh37 |
NC_000017.9:g.35075120G>C | NCBI36 |
NG_008892.1:g.4996G>C , LRG_210:g.4996G>C | |
NG_042278.1:g.2361G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.2:c.-19G>C | ENSP00000312624.2:n.-19G>C |