HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45329171G>T , CM000663.2:g.45329171G>T | GRCh38 |
NC_000001.10:g.45794843G>T , CM000663.1:g.45794843G>T | GRCh37 |
NC_000001.9:g.45567430G>T | NCBI36 |
NG_008189.1:g.16300C>A , LRG_220:g.16300C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529984.5:c.*135C>A | ENSP00000437093.1:n.*135C>A |