gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42458457C>G , CM000675.2:g.42458457C>G | GRCh38 |
| NC_000013.10:g.43032593C>G , CM000675.1:g.43032593C>G | GRCh37 |
| NC_000013.9:g.41930593C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941906.1:n.244+20985C>G | ||
| NR_135319.1:n.336+20985C>G |