gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97784318C>G , CM000671.2:g.97784318C>G | GRCh38 |
| NC_000009.11:g.100546600C>G , CM000671.1:g.100546600C>G | GRCh37 |
| NC_000009.10:g.99586421C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930161.1:n.363+25577G>C | ||
| NR_147055.1:n.777+19933G>C |