gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2479419 (EAS)
Genomes Max Group AF
0.2479419 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.99259781C>T , CM000664.2:g.99259781C>T | GRCh38 |
| NC_000002.11:g.99876244C>T , CM000664.1:g.99876244C>T | GRCh37 |
| NC_000002.10:g.99242676C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424491.5:c.*292+43667C>T | ENSP00000390891.1:n.*292+43667C>T | |
| XM_017003751.2:c.-4327G>A | XP_016859240.1:n.-4327G>A | |
| XM_024452782.1:c.-4792G>A | XP_024308550.1:n.-4792G>A |