Canonical Allele Identifier:
CA16373882
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12737201 (AFR)
Genomes Max Group AF
0.12737201 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121565769T>G , CM000671.2:g.121565769T>G | GRCh38 |
| NC_000009.11:g.124328048T>G , CM000671.1:g.124328048T>G | GRCh37 |
| NC_000009.10:g.123367869T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746560.1:n.2055+1082A>C |