gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3592238 (EAS)
Genomes Max Group AF
0.3592238 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42357544C>T , CM000680.2:g.42357544C>T | GRCh38 |
| NC_000018.9:g.39937509C>T , CM000680.1:g.39937509C>T | GRCh37 |
| NC_000018.8:g.38191507C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046174.2:n.622+22241C>T | ||
| NR_046454.1:n.403-96388C>T | ||
| NR_046455.1:n.240-96388C>T | ||
| NR_046456.1:n.713+22241C>T | ||
| NR_046457.1:n.493+67950C>T |