Canonical Allele Identifier:
CA111418806
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41361317 (AFR)
Genomes Max Group AF
0.41361317 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177298634C>T , CM000666.2:g.177298634C>T | GRCh38 |
| NC_000004.11:g.178219788C>T , CM000666.1:g.178219788C>T | GRCh37 |
| NC_000004.10:g.178456782C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741925.1:n.229+2413G>A |