gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14417726 (SAS)
Genomes Max Group AF
0.14074164 (SAS)
Exomes Max Group AF
0.14392325 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76578744C>T , CM000679.2:g.76578744C>T | GRCh38 |
| NC_000017.10:g.74574826C>T , CM000679.1:g.74574826C>T | GRCh37 |
| NC_000017.9:g.72086421C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225276.10:c.186+12G>A MANE Select | ENSP00000225276.4:n.186+12G>A | |
| ENST00000225276.9:c.186+12G>A | ENSP00000225276.4:n.186+12G>A | |
| ENST00000585736.1:c.*43+12G>A | ENSP00000466513.1:n.*43+12G>A | |
| ENST00000586520.5:n.235+12G>A | ||
| ENST00000588005.5:n.149+12G>A | ||
| ENST00000588120.5:c.126-4205G>A | ENSP00000465778.1:n.126-4205G>A | |
| ENST00000592508.1:n.228+12G>A | ||
| NM_006456.2:c.186+12G>A | NP_006447.2:n.186+12G>A | |
| XM_005256954.3:c.186+12G>A | XP_005257011.1:n.186+12G>A | |
| XM_011524200.1:c.186+12G>A | XP_011522502.1:n.186+12G>A | |
| XR_934349.1:n.444+12G>A | ||
| XR_934350.1:n.444+12G>A | ||
| XR_934351.1:n.444+12G>A | ||
| XM_005256954.4:c.186+12G>A | XP_005257011.1:n.186+12G>A | |
| XR_001752403.2:n.506+12G>A | ||
| XR_001752404.2:n.506+12G>A | ||
| XR_001752405.2:n.506+12G>A | ||
| XR_001752406.2:n.444+12G>A | ||
| XR_001752407.2:n.444+12G>A | ||
| XR_934349.2:n.506+12G>A | ||
| NM_006456.3:c.186+12G>A MANE Select | NP_006447.2:n.186+12G>A |