dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48672429A>G , CM000679.2:g.48672429A>G | GRCh38 |
| NC_000017.10:g.46749791A>G , CM000679.1:g.46749791A>G | GRCh37 |
| NC_000017.9:g.44104790A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934812.1:n.768-10830A>G | ||
| XR_934813.1:n.768-10810A>G | ||
| XR_934814.1:n.611-10830A>G | ||
| XR_934815.1:n.232-10830A>G | ||
| XR_934817.1:n.610-10830A>G | ||
| XR_934819.1:n.776-10830A>G | ||
| XR_001752925.2:n.38-10830A>G |