Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71269329G>A , CM000674.2:g.71269329G>A | GRCh38 |
| NC_000012.11:g.71663109G>A , CM000674.1:g.71663109G>A | GRCh37 |
| NC_000012.10:g.69949376G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-110+8022C>T | ENSP00000377003.2:n.-110+8022C>T | |
| ENST00000549421.1:n.206+13387C>T |