gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71324035 (EAS)
Genomes Max Group AF
0.71324035 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50267187C>T , CM000675.2:g.50267187C>T | GRCh38 |
| NC_000013.10:g.50841323C>T , CM000675.1:g.50841323C>T | GRCh37 |
| NC_000013.9:g.49739324C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461527.6:n.441-7745C>T | ||
| ENST00000463474.6:n.441-71489C>T | ||
| ENST00000467721.5:n.441-123011C>T | ||
| ENST00000468168.5:n.441-123011C>T | ||
| ENST00000468522.5:n.441-147902C>T | ||
| ENST00000473075.2:n.105+18809C>T | ||
| ENST00000475913.5:n.191+81117C>T | ||
| ENST00000476738.5:n.388-147902C>T | ||
| ENST00000483444.5:n.97+42810C>T | ||
| ENST00000484529.5:n.192-7745C>T | ||
| ENST00000485007.5:n.191+81117C>T | ||
| ENST00000486895.5:n.388-123011C>T | ||
| ENST00000490577.5:n.1637+109111C>T | ||
| ENST00000491341.5:n.441-123011C>T | ||
| ENST00000491615.5:n.441-123011C>T | ||
| NR_109974.1:n.443-123011C>T |