dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53038712 (NFE)
Genomes Max Group AF
0.53075794 (NFE)
Exomes Max Group AF
0.5294358 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.31095890C>G , CM000669.2:g.31095890C>G | GRCh38 |
| NC_000007.13:g.31135504C>G , CM000669.1:g.31135504C>G | GRCh37 |
| NC_000007.12:g.31102029C>G | NCBI36 |
| NG_029869.1:g.48429C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396211.7:c.1046+3155C>G | ENSP00000379514.2:n.1046+3155C>G | |
| ENST00000705423.1:c.1046+3155C>G | ENSP00000516124.1:n.1046+3155C>G | |
| ENST00000705424.1:c.1046+3155C>G | ENSP00000516125.1:n.1046+3155C>G | |
| ENST00000304166.9:c.1046+3155C>G MANE Select | ENSP00000306620.4:n.1046+3155C>G | |
| ENST00000304166.8:c.1046+3155C>G | ENSP00000306620.4:n.1046+3155C>G | |
| ENST00000396211.6:c.1046+3155C>G | ENSP00000379514.2:n.1046+3155C>G | |
| ENST00000409363.5:c.983+3155C>G | ENSP00000387335.1:n.983+3155C>G | |
| ENST00000409489.5:c.1130+140C>G | ENSP00000386395.1:n.1130+140C>G | |
| ENST00000436116.1:c.279+140C>G | ||
| ENST00000614107.4:c.1046+3155C>G | ENSP00000483721.1:n.1046+3155C>G | |
| NM_001118.4:c.1046+3155C>G | NP_001109.2:n.1046+3155C>G | |
| NM_001199635.1:c.1046+3155C>G | NP_001186564.1:n.1046+3155C>G | |
| NM_001199636.1:c.1046+3155C>G | NP_001186565.1:n.1046+3155C>G | |
| NM_001199637.1:c.983+3155C>G | NP_001186566.1:n.983+3155C>G | |
| XM_005249618.3:c.875+3155C>G | XP_005249675.1:n.875+3155C>G | |
| XM_006715645.1:c.1130+140C>G | XP_006715708.1:n.1130+140C>G | |
| XM_011515117.1:c.1130+140C>G | XP_011513419.1:n.1130+140C>G | |
| XM_011515118.1:c.1109+140C>G | XP_011513420.1:n.1109+140C>G | |
| XM_011515119.1:c.1067+140C>G | XP_011513421.1:n.1067+140C>G | |
| XM_011515120.1:c.959+140C>G | XP_011513422.1:n.959+140C>G | |
| XM_005249618.5:c.875+3155C>G | XP_005249675.1:n.875+3155C>G | |
| XM_006715645.3:c.1130+140C>G | XP_006715708.1:n.1130+140C>G | |
| XM_017011736.2:c.1025+3155C>G | XP_016867225.1:n.1025+3155C>G | |
| XM_017011737.2:c.983+3155C>G | XP_016867226.1:n.983+3155C>G | |
| XM_017011738.2:c.875+3155C>G | XP_016867227.1:n.875+3155C>G | |
| NM_001118.5:c.1046+3155C>G MANE Select | NP_001109.2:n.1046+3155C>G | |
| NM_001199636.2:c.1046+3155C>G | NP_001186565.1:n.1046+3155C>G | |
| NM_001199637.2:c.983+3155C>G | NP_001186566.1:n.983+3155C>G | |
| NM_001199635.2:c.1046+3155C>G | NP_001186564.1:n.1046+3155C>G |