HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993315C>A , CM000665.2:g.36993315C>A | GRCh38 |
NC_000003.11:g.37034806C>A , CM000665.1:g.37034806C>A | GRCh37 |
NC_000003.10:g.37009810C>A | NCBI36 |
NG_007109.2:g.4966C>A , LRG_216:g.4966C>A | |
NG_008418.1:g.4990G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-233C>A | ENSP00000500979.2:n.-233C>A |