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