Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13887364G= , CM000686.2:g.13887364G= | GRCh38 |
| NC_000024.9:g.15999244G= , CM000686.1:g.15999244G= | GRCh37 |
| NC_000024.8:g.14508638G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000472227.5:n.1029G= | |
| ENST00000652544.1:n.1303G= |