gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14120538 (NFE)
Genomes Max Group AF
0.14120538 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80007366T>C , CM000669.2:g.80007366T>C | GRCh38 |
| NC_000007.13:g.79636682T>C , CM000669.1:g.79636682T>C | GRCh37 |
| NC_000007.12:g.79474618T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649225.1:c.-337+50300T>C | ENSP00000496829.1:n.-337+50300T>C |