| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707968A= , CM000686.2:g.8707968A= | GRCh38 |
| NC_000024.9:g.8576009A= , CM000686.1:g.8576009A= | GRCh37 |
| NC_000024.8:g.8636009A= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000623558.1:c.139+8936A= | ENSP00000485446.1:n.139+8936A= |
| ENST00000624593.1:c.-57+40748T= | ENSP00000485106.1:n.-57+40748T= |