Canonical Allele Identifier:
CA275655749
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24573763 (MID)
Genomes Max Group AF
0.21993474 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93095172G>C , CM000677.2:g.93095172G>C | GRCh38 |
| NC_000015.9:g.93638401G>C , CM000677.1:g.93638401G>C | GRCh37 |
| NC_000015.8:g.91439405G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_243235.2:n.87+5683G>C | ||
| XR_932624.1:n.87+5683G>C | ||
| XR_243235.3:n.87+5683G>C | ||
| XR_932624.2:n.87+5683G>C |