Canonical Allele Identifier:
CA14858282
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6496475 (NFE)
Genomes Max Group AF
0.6496475 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.27293028G>C , CM000683.2:g.27293028G>C | GRCh38 |
| NC_000021.8:g.28665347G>C , CM000683.1:g.28665347G>C | GRCh37 |
| NC_000021.7:g.27587218G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430359.2:n.835-28458C>G | ||
| XR_937629.1:n.835-28458C>G | ||
| XR_937630.1:n.834+57471C>G | ||
| XR_430359.3:n.848-28458C>G | ||
| XR_937629.2:n.848-28458C>G |