gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28026707 (NFE)
Genomes Max Group AF
0.27765794 (NFE)
Exomes Max Group AF
0.28026138 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38059462T>A , CM000684.2:g.38059462T>A | GRCh38 |
| NC_000022.10:g.38455469T>A , CM000684.1:g.38455469T>A | GRCh37 |
| NC_000022.9:g.36785415T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356976.8:c.153+117T>A MANE Select | ENSP00000349465.3:n.153+117T>A | |
| ENST00000356976.7:c.153+117T>A | ENSP00000349465.3:n.153+117T>A | |
| ENST00000404072.7:c.153+117T>A | ENSP00000385205.3:n.153+117T>A | |
| ENST00000424694.5:c.153+117T>A | ENSP00000398141.1:n.153+117T>A | |
| ENST00000426258.5:c.41+1612T>A | ENSP00000413962.1:n.41+1612T>A | |
| ENST00000432756.6:c.41+1612T>A | ENSP00000387861.2:n.41+1612T>A | |
| ENST00000435166.1:c.153+117T>A | ENSP00000397588.1:n.153+117T>A | |
| ENST00000437453.5:c.153+117T>A | ENSP00000410793.1:n.153+117T>A | |
| ENST00000466374.1:n.315+117T>A | ||
| ENST00000468288.5:n.229+117T>A | ||
| ENST00000469819.5:n.391+117T>A | ||
| ENST00000484021.5:n.392+117T>A | ||
| NM_001039583.1:c.153+117T>A | NP_001034672.1:n.153+117T>A | |
| NM_001039584.1:c.153+117T>A | NP_001034673.1:n.153+117T>A | |
| NM_012407.3:c.153+117T>A | NP_036539.1:n.153+117T>A | |
| XM_006724379.1:c.-165+117T>A | XP_006724442.1:n.-165+117T>A | |
| XM_006724380.1:c.-165+117T>A | XP_006724443.1:n.-165+117T>A | |
| XM_011530517.1:c.153+117T>A | XP_011528819.1:n.153+117T>A | |
| XR_937962.1:n.614+117T>A | ||
| XM_006724379.2:c.-165+117T>A | XP_006724442.1:n.-165+117T>A | |
| XM_006724380.2:c.-165+117T>A | XP_006724443.1:n.-165+117T>A | |
| XM_011530517.3:c.153+117T>A | XP_011528819.1:n.153+117T>A | |
| XM_017029090.1:c.-274+1612T>A | XP_016884579.1:n.-274+1612T>A | |
| XM_017029091.1:c.-112+1612T>A | XP_016884580.1:n.-112+1612T>A | |
| XM_017029092.1:c.-274+117T>A | XP_016884581.1:n.-274+117T>A | |
| XM_017029093.1:c.-165+1612T>A | XP_016884582.1:n.-165+1612T>A | |
| XM_017029094.1:c.-165+1612T>A | XP_016884583.1:n.-165+1612T>A | |
| XR_002958723.1:n.304+117T>A | ||
| XR_002958724.1:n.396+117T>A | ||
| XR_002958725.1:n.298+117T>A | ||
| XR_002958726.1:n.670+117T>A | ||
| XR_002958727.1:n.670+117T>A | ||
| NM_012407.4:c.153+117T>A MANE Select | NP_036539.1:n.153+117T>A |