| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.629994A= , CM000663.2:g.629994A= | GRCh38 |
| NC_000001.10:g.565374A= , CM000663.1:g.565374A= | GRCh37 |
| NC_000001.9:g.555237A= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000419394.2:n.481-43039T= | |
| ENST00000440196.3:n.87-988T= | |
| ENST00000440200.5:n.170-21938T= | |
| ENST00000452176.2:n.21-988T= | |
| ENST00000457540.1:n.355A= | |
| ENST00000634337.2:n.161-21938T= | |
| ENST00000635509.2:n.313-28417T= | |
| ENST00000641296.1:n.75-988T= | |
| ENST00000648019.1:n.636-21938T= |