HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45329224A>G , CM000663.2:g.45329224A>G | GRCh38 |
NC_000001.10:g.45794896A>G , CM000663.1:g.45794896A>G | GRCh37 |
NC_000001.9:g.45567483A>G | NCBI36 |
NG_008189.1:g.16247T>C , LRG_220:g.16247T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529984.5:c.*82T>C | ENSP00000437093.1:n.*82T>C |