gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57745518 (EAS)
Genomes Max Group AF
0.57745518 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217431785C>T , CM000664.2:g.217431785C>T | GRCh38 |
| NC_000002.11:g.218296508C>T , CM000664.1:g.218296508C>T | GRCh37 |
| NC_000002.10:g.218004753C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474063.5:n.958+1138G>A | ||
| ENST00000484635.1:n.368+1138G>A | ||
| ENST00000486365.5:n.1790+1138G>A | ||
| NR_026597.1:n.1790+1138G>A | ||
| NR_026597.2:n.1790+1138G>A |