HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431156G>C , CM000663.2:g.229431156G>C | GRCh38 |
NC_000001.10:g.229566903G>C , CM000663.1:g.229566903G>C | GRCh37 |
NC_000001.9:g.227633526G>C | NCBI36 |
NG_006672.1:g.7941C>G , LRG_429:g.7941C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684723.1:c.*343C>G | ENSP00000508084.1:n.*343C>G |