gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53418785C>G , CM000663.2:g.53418785C>G | GRCh38 |
| NC_000001.10:g.53884457C>G , CM000663.1:g.53884457C>G | GRCh37 |
| NC_000001.9:g.53657045C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563752.5:n.202-1119G>C | ||
| XR_426691.2:n.27-1119G>C | ||
| XR_426692.2:n.20-1119G>C |