HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203866366G>C , CM000664.2:g.203866366G>C | GRCh38 |
NC_000002.11:g.204731089G>C , CM000664.1:g.204731089G>C | GRCh37 |
NC_000002.10:g.204439334G>C | NCBI36 |
NG_011502.1:g.3581G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696479.1:c.48-1552G>C | ENSP00000512655.1:n.48-1552G>C |