HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431227G>A , CM000663.2:g.229431227G>A | GRCh38 |
NC_000001.10:g.229566974G>A , CM000663.1:g.229566974G>A | GRCh37 |
NC_000001.9:g.227633597G>A | NCBI36 |
NG_006672.1:g.7870C>T , LRG_429:g.7870C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684723.1:c.*272C>T | ENSP00000508084.1:n.*272C>T |