HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45329232C>T , CM000663.2:g.45329232C>T | GRCh38 |
NC_000001.10:g.45794904C>T , CM000663.1:g.45794904C>T | GRCh37 |
NC_000001.9:g.45567491C>T | NCBI36 |
NG_008189.1:g.16239G>A , LRG_220:g.16239G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529984.5:c.*74G>A | ENSP00000437093.1:n.*74G>A |