Canonical Allele Identifier:
CA59149034
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06680252 (NFE)
Genomes Max Group AF
0.06680252 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156270452T>G , CM000664.2:g.156270452T>G | GRCh38 |
| NC_000002.11:g.157126964T>G , CM000664.1:g.157126964T>G | GRCh37 |
| NC_000002.10:g.156835210T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923502.1:n.1303-42448A>C |