gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56920934 (SAS)
Genomes Max Group AF
0.56920934 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10041291T>A , CM000666.2:g.10041291T>A | GRCh38 |
| NC_000004.11:g.10042915T>A , CM000666.1:g.10042915T>A | GRCh37 |
| NC_000004.10:g.9652013T>A | NCBI36 |
| NG_011540.1:g.3958A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506583.5:c.-175-1027A>T | ENSP00000422209.1:n.-175-1027A>T | |
| ENST00000513129.1:c.-41+13542A>T | ENSP00000426800.1:n.-41+13542A>T |