dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78849442T>A , CM000677.2:g.78849442T>A | GRCh38 |
| NC_000015.9:g.79141784T>A , CM000677.1:g.79141784T>A | GRCh37 |
| NC_000015.8:g.76928839T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379535.8:c.115+8767T>A | ENSP00000368850.4:n.115+8767T>A | |
| ENST00000559697.5:n.415+1361T>A |