| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2822636C= , CM000686.2:g.2822636C= | GRCh38 |
| NC_000024.9:g.2690677C= , CM000686.1:g.2690677C= | GRCh37 |
| NC_000024.8:g.2750677C= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000679518.1:n.107-18850C= | |
| ENST00000681787.1:n.107-18392C= | |
| ENST00000681940.1:n.107-23010C= |