Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12312172G>A , CM000686.2:g.12312172G>A | GRCh38 |
| NC_000024.9:g.14432899G>A , CM000686.1:g.14432899G>A | GRCh37 |
| NC_000024.8:g.12942907G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651802.1:n.451-70764C>T | ||
| ENST00000651835.1:n.320-54141C>T |