gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21884682 (AMR)
Genomes Max Group AF
0.21884682 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50261579C>T , CM000675.2:g.50261579C>T | GRCh38 |
| NC_000013.10:g.50835715C>T , CM000675.1:g.50835715C>T | GRCh37 |
| NC_000013.9:g.49733716C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461527.6:n.441-13353C>T | ||
| ENST00000463474.6:n.441-77097C>T | ||
| ENST00000467721.5:n.441-128619C>T | ||
| ENST00000468168.5:n.441-128619C>T | ||
| ENST00000468522.5:n.441-153510C>T | ||
| ENST00000473075.2:n.105+13201C>T | ||
| ENST00000475913.5:n.191+75509C>T | ||
| ENST00000476738.5:n.388-153510C>T | ||
| ENST00000483444.5:n.97+37202C>T | ||
| ENST00000484529.5:n.192-13353C>T | ||
| ENST00000485007.5:n.191+75509C>T | ||
| ENST00000486895.5:n.388-128619C>T | ||
| ENST00000490577.5:n.1637+103503C>T | ||
| ENST00000491341.5:n.441-128619C>T | ||
| ENST00000491615.5:n.441-128619C>T | ||
| NR_109974.1:n.443-128619C>T |