gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44863255 (NFE)
Genomes Max Group AF
0.44863255 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30727543T>C , CM000673.2:g.30727543T>C | GRCh38 |
| NC_000011.9:g.30749090T>C , CM000673.1:g.30749090T>C | GRCh37 |
| NC_000011.8:g.30705666T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428890.2:n.179+7318A>G | ||
| XR_931157.1:n.179+7318A>G | ||
| XR_001748478.1:n.197+7318A>G | ||
| XR_001748479.1:n.200-789A>G | ||
| XR_428890.4:n.196+7318A>G | ||
| XR_931157.2:n.199+7318A>G |