HGVS | Genome Assembly |
---|---|
NC_000020.11:g.2470974C>A , CM000682.2:g.2470974C>A | GRCh38 |
NC_000020.10:g.2451620C>A , CM000682.1:g.2451620C>A | GRCh37 |
NC_000020.9:g.2399620C>A | NCBI36 |
NG_042057.1:g.4880G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000461548.1:c.305-3216G>T | ENSP00000456213.1:n.305-3216G>T |