dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4674350G>T , CM000672.2:g.4674350G>T | GRCh38 |
| NC_000010.10:g.4716542G>T , CM000672.1:g.4716542G>T | GRCh37 |
| NC_000010.9:g.4706542G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024475.1:n.22+3699C>A | ||
| XR_930595.1:n.1757-2315G>T | ||
| XR_930596.1:n.1746-2315G>T | ||
| XR_001747338.1:n.1757-2315G>T |