HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454162A>T , CM000663.2:g.207454162A>T | GRCh38 |
NC_000001.10:g.207627507A>T , CM000663.1:g.207627507A>T | GRCh37 |
NC_000001.9:g.205694130A>T | NCBI36 |
NG_013006.1:g.4863A>T , LRG_348:g.4863A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1067A>T | ENSP00000514493.1:n.-385+1067A>T |