gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38482598 (EAS)
Genomes Max Group AF
0.38482598 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70463773G>A , CM000666.2:g.70463773G>A | GRCh38 |
| NC_000004.11:g.71329490G>A , CM000666.1:g.71329490G>A | GRCh37 |
| NC_000004.10:g.71364079G>A | NCBI36 |
| NG_012348.1:g.38282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413702.5:c.-92-8442G>A | ENSP00000407422.1:n.-92-8442G>A | |
| ENST00000515308.6:n.197-8442G>A | ||
| NM_001145006.1:c.-92-8442G>A | NP_001138478.1:n.-92-8442G>A | |
| NM_001145006.2:c.-92-8442G>A | NP_001138478.1:n.-92-8442G>A |