gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168901052G>T , CM000664.2:g.168901052G>T | GRCh38 |
| NC_000002.11:g.169757562G>T , CM000664.1:g.169757562G>T | GRCh37 |
| NC_000002.10:g.169465808G>T | NCBI36 |
| NG_011682.1:g.4813G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451987.5:c.-172-10366C>A | ENSP00000393322.1:n.-172-10366C>A | |
| ENST00000472216.2:n.177-10366C>A |