dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29067038 (AFR)
Genomes Max Group AF
0.29067038 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.51974981C>T , CM000670.2:g.51974981C>T | GRCh38 |
| NC_000008.10:g.52887541C>T , CM000670.1:g.52887541C>T | GRCh37 |
| NC_000008.9:g.53050094C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928873.1:n.618-47435C>T |