Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113872746G>A , CM000663.2:g.113872746G>A | GRCh38 |
| NC_000001.10:g.114415368G>A , CM000663.1:g.114415368G>A | GRCh37 |
| NC_000001.9:g.114216891G>A | NCBI36 |
| NG_011432.1:g.4008C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037864.1:n.246+14730G>A | |
| NR_125965.1:n.415-25122G>A |