dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48643203C>A , CM000679.2:g.48643203C>A | GRCh38 |
| NC_000017.10:g.46720565C>A , CM000679.1:g.46720565C>A | GRCh37 |
| NC_000017.9:g.44075564C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934812.1:n.618+125C>A | ||
| XR_934813.1:n.618+125C>A | ||
| XR_934814.1:n.461+125C>A | ||
| XR_934817.1:n.460+125C>A | ||
| XR_934819.1:n.626+125C>A | ||
| XR_934820.1:n.468+3402G>T | ||
| XR_002958097.1:n.342+3402G>T |