Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7352686G>A , CM000686.2:g.7352686G>A | GRCh38 |
| NC_000024.9:g.7220727G>A , CM000686.1:g.7220727G>A | GRCh37 |
| NC_000024.8:g.7280727G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_028062.1:n.1061-3449G>A | |
| ENST00000472666.1:n.200-3449G>A | |
| ENST00000528056.5:n.1061-3449G>A | |
| ENST00000533551.5:n.720-3449G>A |