HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454215C>G , CM000663.2:g.207454215C>G | GRCh38 |
NC_000001.10:g.207627560C>G , CM000663.1:g.207627560C>G | GRCh37 |
NC_000001.9:g.205694183C>G | NCBI36 |
NG_013006.1:g.4916C>G , LRG_348:g.4916C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1120C>G | ENSP00000514493.1:n.-385+1120C>G |