gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88532347 (AFR)
Genomes Max Group AF
0.88532347 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293365C>T , CM000669.2:g.17293365C>T | GRCh38 |
| NC_000007.13:g.17332989C>T , CM000669.1:g.17332989C>T | GRCh37 |
| NC_000007.12:g.17299514C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-202-2932C>T | ENSP00000495987.1:n.-202-2932C>T | |
| XR_927069.1:n.293+1801G>A | ||
| XR_927070.1:n.293+1801G>A | ||
| XR_927071.1:n.293+1801G>A | ||
| XR_927072.1:n.294+1801G>A | ||
| XR_927073.1:n.295+1801G>A | ||
| XR_927073.2:n.295+1801G>A |