HGVS | Genome Assembly |
---|---|
NC_000020.11:g.2470905G>A , CM000682.2:g.2470905G>A | GRCh38 |
NC_000020.10:g.2451551G>A , CM000682.1:g.2451551G>A | GRCh37 |
NC_000020.9:g.2399551G>A | NCBI36 |
NG_042057.1:g.4949C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000461548.1:c.305-3147C>T | ENSP00000456213.1:n.305-3147C>T |