gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000629 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76585943G>A , CM000679.2:g.76585943G>A | GRCh38 |
| NC_000017.10:g.74582025G>A , CM000679.1:g.74582025G>A | GRCh37 |
| NC_000017.9:g.72093620G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225276.9:c.-135C>T | ENSP00000225276.4:n.-135C>T | |
| ENST00000585736.1:c.-135C>T | ENSP00000466513.1:n.-135C>T | |
| ENST00000588005.5:n.88+926C>T | ||
| NM_006456.2:c.-135C>T | NP_006447.2:n.-135C>T | |
| XM_005256954.3:c.-135C>T | XP_005257011.1:n.-135C>T | |
| XM_011524200.1:c.-135C>T | XP_011522502.1:n.-135C>T | |
| XR_934349.1:n.124C>T | ||
| XR_934350.1:n.124C>T | ||
| XR_934351.1:n.124C>T | ||
| XM_005256954.4:c.-135C>T | XP_005257011.1:n.-135C>T | |
| XR_001752403.2:n.186C>T | ||
| XR_001752404.2:n.186C>T | ||
| XR_001752405.2:n.186C>T | ||
| XR_001752406.2:n.124C>T | ||
| XR_001752407.2:n.124C>T | ||
| XR_934349.2:n.186C>T |