Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13767137A= , CM000686.2:g.13767137A= | GRCh38 |
| NC_000024.9:g.15879017A= , CM000686.1:g.15879017A= | GRCh37 |
| NC_000024.8:g.14388411A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652544.1:n.684+12348A= | ||
| ENST00000430079.5:n.429+12348A= | ||
| ENST00000460561.1:n.212+12348A= | ||
| ENST00000472227.5:n.350+15132A= |