Canonical Allele Identifier:
CA191233318
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013525 (NFE)
Genomes Max Group AF
0.00013525 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21701433T>G , CM000671.2:g.21701433T>G | GRCh38 |
| NC_000009.11:g.21701432T>G , CM000671.1:g.21701432T>G | GRCh37 |
| NC_000009.10:g.21691432T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746563.2:n.384+1484A>C |