HGVS | Genome Assembly |
---|---|
NC_000004.12:g.53933078T>A , CM000666.2:g.53933078T>A | GRCh38 |
NC_000004.11:g.54799245T>A , CM000666.1:g.54799245T>A | GRCh37 |
NC_000004.10:g.54494002T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000507166.5:c.1018-341847T>A | ENSP00000423325.1:n.1018-341847T>A |