HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993305G>A , CM000665.2:g.36993305G>A | GRCh38 |
NC_000003.11:g.37034796G>A , CM000665.1:g.37034796G>A | GRCh37 |
NC_000003.10:g.37009800G>A | NCBI36 |
NG_007109.2:g.4956G>A , LRG_216:g.4956G>A | |
NG_008418.1:g.5000C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-243G>A | ENSP00000500979.2:n.-243G>A |