gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35998518 (EAS)
Genomes Max Group AF
0.35998518 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60586880C>T , CM000672.2:g.60586880C>T | GRCh38 |
| NC_000010.10:g.62346638C>T , CM000672.1:g.62346638C>T | GRCh37 |
| NC_000010.9:g.62016644C>T | NCBI36 |
| NG_029917.1:g.151647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373827.6:c.96+28306G>A | ENSP00000362933.2:n.96+28306G>A | |
| ENST00000510382.1:n.101+28306G>A | ||
| NM_001204403.1:c.96+28306G>A | NP_001191332.1:n.96+28306G>A | |
| XM_011539700.1:c.102+28306G>A | XP_011538002.1:n.102+28306G>A | |
| XM_011539701.1:c.96+28306G>A | XP_011538003.1:n.96+28306G>A | |
| XM_011539702.1:c.57+146383G>A | XP_011538004.1:n.57+146383G>A | |
| NM_001204403.2:c.96+28306G>A | NP_001191332.1:n.96+28306G>A |