Canonical Allele Identifier:
CA11216547
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08058179 (NFE)
Genomes Max Group AF
0.08058179 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118078265G>A , CM000664.2:g.118078265G>A | GRCh38 |
| NC_000002.11:g.118835841G>A , CM000664.1:g.118835841G>A | GRCh37 |
| NC_000002.10:g.118552311G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512305.1:c.697-733C>T | XP_011510607.1:n.697-733C>T | |
| XR_001739662.2:n.138+9986C>T |