gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62109682 (NFE)
Genomes Max Group AF
0.62109682 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17244953T>C , CM000669.2:g.17244953T>C | GRCh38 |
| NC_000007.13:g.17284577T>C , CM000669.1:g.17284577T>C | GRCh37 |
| NC_000007.12:g.17251102T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-955-2021T>C | ENSP00000495987.1:n.-955-2021T>C | |
| XR_927073.2:n.861+14299A>G |