Canonical Allele Identifier:
CA14861350
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72026699 (AFR)
Genomes Max Group AF
0.72026699 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37560476T>C , CM000683.2:g.37560476T>C | GRCh38 |
| NC_000021.8:g.38932778T>C , CM000683.1:g.38932778T>C | GRCh37 |
| NC_000021.7:g.37854648T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017028523.1:c.-2950T>C | XP_016884012.1:n.-2950T>C | |
| XR_937706.2:n.458T>C | ||
| XR_005647073.1:n.458T>C |