Canonical Allele Identifier:
CA11255350
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05100595 (MID)
Genomes Max Group AF
0.04856681 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118072882C>T , CM000664.2:g.118072882C>T | GRCh38 |
| NC_000002.11:g.118830458C>T , CM000664.1:g.118830458C>T | GRCh37 |
| NC_000002.10:g.118546928C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001739662.2:n.139-9866G>A |