gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56212406 (EAS)
Genomes Max Group AF
0.55764542 (EAS)
Exomes Max Group AF
0.56055918 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50748601T>C , CM000677.2:g.50748601T>C | GRCh38 |
| NC_000015.9:g.51040798T>C , CM000677.1:g.51040798T>C | GRCh37 |
| NC_000015.8:g.48828090T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559293.2:c.360+87A>G | ENSP00000513578.1:n.360+87A>G | |
| ENST00000698130.1:n.535+87A>G | ||
| ENST00000698131.1:c.360+87A>G | ENSP00000513576.1:n.360+87A>G | |
| ENST00000698132.1:c.360+87A>G | ENSP00000513577.1:n.360+87A>G | |
| ENST00000698133.1:c.360+87A>G | ENSP00000513579.1:n.360+87A>G | |
| ENST00000698134.1:c.360+87A>G | ENSP00000513580.1:n.360+87A>G | |
| ENST00000698135.1:c.360+87A>G | ENSP00000513581.1:n.360+87A>G | |
| ENST00000698136.1:n.535+87A>G | ||
| ENST00000698137.1:n.535+87A>G | ||
| ENST00000698138.1:n.535+87A>G | ||
| ENST00000698140.1:n.535+87A>G | ||
| ENST00000261854.10:c.360+87A>G MANE Select | ENSP00000261854.5:n.360+87A>G | |
| ENST00000261854.9:c.360+87A>G | ENSP00000261854.5:n.360+87A>G | |
| ENST00000558414.1:c.234+87A>G | ENSP00000453932.1:n.234+87A>G | |
| ENST00000560288.1:n.536+87A>G | ||
| NM_032802.3:c.360+87A>G | NP_116191.2:n.360+87A>G | |
| XM_005254722.2:c.360+87A>G | XP_005254779.1:n.360+87A>G | |
| XM_011522113.1:c.414+87A>G | XP_011520415.1:n.414+87A>G | |
| XM_011522114.1:c.414+87A>G | XP_011520416.1:n.414+87A>G | |
| XM_011522115.1:c.414+87A>G | XP_011520417.1:n.414+87A>G | |
| XM_011522116.1:c.414+87A>G | XP_011520418.1:n.414+87A>G | |
| XM_005254722.3:c.360+87A>G | XP_005254779.1:n.360+87A>G | |
| XM_017022680.1:c.360+87A>G | XP_016878169.1:n.360+87A>G | |
| XM_017022681.1:c.360+87A>G | XP_016878170.1:n.360+87A>G | |
| NM_032802.4:c.360+87A>G MANE Select | NP_116191.2:n.360+87A>G |