gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83497446 (EAS)
Genomes Max Group AF
0.83497446 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50492487C>T , CM000675.2:g.50492487C>T | GRCh38 |
| NC_000013.10:g.51066623C>T , CM000675.1:g.51066623C>T | GRCh37 |
| NC_000013.9:g.49964624C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460525.5:n.253-164C>T | ||
| ENST00000461527.6:n.807-164C>T | ||
| ENST00000462427.1:n.253-35379C>T | ||
| ENST00000463474.6:n.849+34374C>T | ||
| ENST00000467721.5:n.787-35379C>T | ||
| ENST00000468168.5:n.673-164C>T | ||
| ENST00000468522.5:n.693-164C>T | ||
| ENST00000469095.5:n.1072-164C>T | ||
| ENST00000470593.5:n.115-35379C>T | ||
| ENST00000470726.6:n.346+58937C>T | ||
| ENST00000472136.5:n.253-164C>T | ||
| ENST00000474630.5:n.209-164C>T | ||
| ENST00000475913.5:n.424-164C>T | ||
| ENST00000476738.5:n.640-35379C>T | ||
| ENST00000479420.5:n.347-164C>T | ||
| ENST00000484869.6:n.1150-164C>T | ||
| ENST00000485007.5:n.538-35379C>T | ||
| ENST00000490577.5:n.1776-164C>T | ||
| ENST00000491341.5:n.787-35693C>T | ||
| ENST00000491482.5:n.233-35379C>T | ||
| ENST00000491615.5:n.787-164C>T | ||
| NR_109974.1:n.675-164C>T |