Canonical Allele Identifier:
CA16111315
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14953076 (NFE)
Genomes Max Group AF
0.14953076 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127130409C>A , CM000664.2:g.127130409C>A | GRCh38 |
| NC_000002.11:g.127887985C>A , CM000664.1:g.127887985C>A | GRCh37 |
| NC_000002.10:g.127604455C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923310.1:n.440-2829C>A | ||
| XR_923311.1:n.492-2829C>A | ||
| XR_923310.2:n.440-2829C>A | ||
| XR_923311.3:n.597-2829C>A |