gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07865218 (EAS)
Genomes Max Group AF
0.07865218 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22547327C>T , CM000670.2:g.22547327C>T | GRCh38 |
| NC_000008.10:g.22404840C>T , CM000670.1:g.22404840C>T | GRCh37 |
| NC_000008.9:g.22460785C>T | NCBI36 |
| NG_030586.1:g.590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522037.5:n.144+2198C>T | ||
| ENST00000523941.5:n.140+2198C>T | ||
| XM_006716266.1:c.-47+2198C>T | XP_006716329.1:n.-47+2198C>T |