gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56804829 (SAS)
Genomes Max Group AF
0.56804829 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10041404C>A , CM000666.2:g.10041404C>A | GRCh38 |
| NC_000004.11:g.10043028C>A , CM000666.1:g.10043028C>A | GRCh37 |
| NC_000004.10:g.9652126C>A | NCBI36 |
| NG_011540.1:g.3845G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506583.5:c.-175-1140G>T | ENSP00000422209.1:n.-175-1140G>T | |
| ENST00000513129.1:c.-41+13429G>T | ENSP00000426800.1:n.-41+13429G>T |