Canonical Allele Identifier:
CA12403363
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92673547 (AFR)
Genomes Max Group AF
0.92673547 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85974061T>C , CM000668.2:g.85974061T>C | GRCh38 |
| NC_000006.11:g.86683779T>C , CM000668.1:g.86683779T>C | GRCh37 |
| NC_000006.10:g.86740498T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241869.3:n.615-19319T>C | ||
| XR_942747.1:n.40+1655T>C | ||
| XR_942748.1:n.26+1655T>C | ||
| XR_001744239.1:n.1570-19319T>C | ||
| XR_001744243.1:n.1433-19319T>C | ||
| XR_002956361.1:n.1992-19319T>C |