HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454178A>C , CM000663.2:g.207454178A>C | GRCh38 |
NC_000001.10:g.207627523A>C , CM000663.1:g.207627523A>C | GRCh37 |
NC_000001.9:g.205694146A>C | NCBI36 |
NG_013006.1:g.4879A>C , LRG_348:g.4879A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1083A>C | ENSP00000514493.1:n.-385+1083A>C |