Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86958168G>A , CM000671.2:g.86958168G>A | GRCh38 |
| NC_000009.11:g.89573083G>A , CM000671.1:g.89573083G>A | GRCh37 |
| NC_000009.10:g.88762903G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_049794.1:n.429+7169G>A |