| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12272103T= , CM000686.2:g.12272103T= | GRCh38 |
| NC_000024.9:g.14392807T= , CM000686.1:g.14392807T= | GRCh37 |
| NC_000024.8:g.12902814T= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651802.1:n.451-30695A= | |
| ENST00000651835.1:n.320-14072A= |