gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002359 (AFR)
Genomes Max Group AF
0.00002805 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.631391C>A , CM000663.2:g.631391C>A | GRCh38 |
| NC_000001.10:g.566771C>A , CM000663.1:g.566771C>A | GRCh37 |
| NC_000001.9:g.556634C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419394.2:n.481-44436G>T | ||
| ENST00000440196.3:n.86+1653G>T | ||
| ENST00000440200.5:n.170-23335G>T | ||
| ENST00000634337.2:n.161-23335G>T | ||
| ENST00000635509.2:n.313-29814G>T | ||
| ENST00000648019.1:n.636-23335G>T | ||
| ENST00000414273.1:n.318C>A |