| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21130019T= , CM000674.2:g.21130019T= | GRCh38 |
| NC_000012.11:g.21282953T= , CM000674.1:g.21282953T= | GRCh37 |
| NC_000012.10:g.21174220T= | NCBI36 |
| NG_011745.1:g.3826T= , LRG_1022:g.3826T= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000543498.5:c.281-11495T= | |
| ENST00000585342.5:c.371-1104T= | ENSP00000467594.1:n.371-1104T= |
| ENST00000590779.5:c.377-1104T= | |
| ENST00000592513.1:c.358-1104T= | |
| ENST00000593147.5:c.406-1104T= | ENSP00000467209.1:n.406-1104T= |