gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3065732 (EAS)
Genomes Max Group AF
0.3065732 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42023389C>T , CM000683.2:g.42023389C>T | GRCh38 |
| NC_000021.8:g.43443498C>T , CM000683.1:g.43443498C>T | GRCh37 |
| NC_000021.7:g.42316567C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027273.2:n.163-917C>T | ||
| NR_119384.1:n.392-917C>T | ||
| NR_119385.1:n.209-917C>T |