HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454208T>G , CM000663.2:g.207454208T>G | GRCh38 |
NC_000001.10:g.207627553T>G , CM000663.1:g.207627553T>G | GRCh37 |
NC_000001.9:g.205694176T>G | NCBI36 |
NG_013006.1:g.4909T>G , LRG_348:g.4909T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1113T>G | ENSP00000514493.1:n.-385+1113T>G |