gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37421293 (EAS)
Genomes Max Group AF
0.37421293 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43998522C>T , CM000684.2:g.43998522C>T | GRCh38 |
| NC_000022.10:g.44394402C>T , CM000684.1:g.44394402C>T | GRCh37 |
| NC_000022.9:g.42725735C>T | NCBI36 |
| NG_029057.1:g.48142C>T | |
| NG_029743.1:g.4312C>T | |
| NG_029057.2:g.48142C>T | |
| NG_029743.2:g.4312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465768.1:n.79+8116C>T |