gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67210872 (NFE)
Genomes Max Group AF
0.67210872 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78943104T>C , CM000677.2:g.78943104T>C | GRCh38 |
| NC_000015.9:g.79235446T>C , CM000677.1:g.79235446T>C | GRCh37 |
| NC_000015.8:g.77022501T>C | NCBI36 |
| NG_009614.1:g.6975A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220166.10:c.91+1787A>G MANE Select | ENSP00000220166.6:n.91+1787A>G | |
| ENST00000525807.6:c.91+1787A>G | ENSP00000432935.2:n.91+1787A>G | |
| ENST00000527715.6:n.139+1787A>G | ||
| ENST00000528436.2:n.155+1787A>G | ||
| ENST00000528741.6:c.-23-3933A>G | ENSP00000435329.2:n.-23-3933A>G | |
| ENST00000529612.6:n.132+1787A>G | ||
| ENST00000529861.6:c.*78+1674A>G | ENSP00000432893.1:n.*78+1674A>G | |
| ENST00000530010.6:n.132+1787A>G | ||
| ENST00000534038.6:n.102+1787A>G | ||
| ENST00000534268.6:n.498+1434A>G | ||
| ENST00000615999.5:c.91+1787A>G | ENSP00000483303.2:n.91+1787A>G | |
| ENST00000649928.2:c.91+1787A>G | ENSP00000496858.2:n.91+1787A>G | |
| ENST00000676510.1:c.91+1787A>G | ENSP00000504686.1:n.91+1787A>G | |
| ENST00000676596.1:c.91+1787A>G | ENSP00000502871.1:n.91+1787A>G | |
| ENST00000676639.1:c.91+1787A>G | ENSP00000504319.1:n.91+1787A>G | |
| ENST00000676671.1:n.298+1434A>G | ||
| ENST00000676808.1:c.91+1787A>G | ENSP00000504472.1:n.91+1787A>G | |
| ENST00000676850.1:c.91+1787A>G | ENSP00000503646.1:n.91+1787A>G | |
| ENST00000676865.1:n.114+1787A>G | ||
| ENST00000676880.1:c.91+1787A>G | ENSP00000504341.1:n.91+1787A>G | |
| ENST00000677011.1:c.-210-3933A>G | ENSP00000504778.1:n.-210-3933A>G | |
| ENST00000677238.1:n.145+1787A>G | ||
| ENST00000677254.1:n.146+1787A>G | ||
| ENST00000677316.1:c.-24+1434A>G | ENSP00000504051.1:n.-24+1434A>G | |
| ENST00000677320.1:c.*78+1674A>G | ENSP00000504445.1:n.*78+1674A>G | |
| ENST00000677448.1:n.512+1434A>G | ||
| ENST00000677534.1:c.91+1787A>G | ENSP00000503261.1:n.91+1787A>G | |
| ENST00000677789.1:c.91+1787A>G | ENSP00000503073.1:n.91+1787A>G | |
| ENST00000677810.1:c.91+1787A>G | ENSP00000503585.1:n.91+1787A>G | |
| ENST00000677874.1:c.91+1787A>G | ENSP00000504459.1:n.91+1787A>G | |
| ENST00000677921.1:c.*78+1674A>G | ENSP00000503406.1:n.*78+1674A>G | |
| ENST00000677936.1:c.91+1787A>G | ENSP00000502988.1:n.91+1787A>G | |
| ENST00000678031.1:c.91+1787A>G | ENSP00000503477.1:n.91+1787A>G | |
| ENST00000678281.1:c.91+1787A>G | ENSP00000503860.1:n.91+1787A>G | |
| ENST00000678283.1:c.91+1787A>G | ENSP00000503908.1:n.91+1787A>G | |
| ENST00000678415.1:c.92-174A>G | ENSP00000504210.1:n.92-174A>G | |
| ENST00000678487.1:c.91+1787A>G | ENSP00000504239.1:n.91+1787A>G | |
| ENST00000678644.1:c.-211+1434A>G | ENSP00000503269.1:n.-211+1434A>G | |
| ENST00000678727.1:c.91+1787A>G | ENSP00000503995.1:n.91+1787A>G | |
| ENST00000678799.1:c.*78+1674A>G | ENSP00000503899.1:n.*78+1674A>G | |
| ENST00000678841.1:n.124+1787A>G | ||
| ENST00000678886.1:c.*78+1674A>G | ENSP00000503640.1:n.*78+1674A>G | |
| ENST00000678940.1:n.158+1787A>G | ||
| ENST00000679017.1:c.91+1787A>G | ENSP00000503247.1:n.91+1787A>G | |
| ENST00000679047.1:c.91+1787A>G | ENSP00000503846.1:n.91+1787A>G | |
| ENST00000679172.1:c.91+1787A>G | ENSP00000503819.1:n.91+1787A>G | |
| ENST00000679211.1:c.*78+1674A>G | ENSP00000503750.1:n.*78+1674A>G | |
| ENST00000679334.1:c.91+1787A>G | ENSP00000503722.1:n.91+1787A>G | |
| ENST00000220166.9:c.91+1787A>G | ENSP00000220166.5:n.91+1787A>G | |
| ENST00000525807.5:c.91+1787A>G | ENSP00000432935.1:n.91+1787A>G | |
| ENST00000528436.1:n.152+1787A>G | ||
| ENST00000528741.5:c.-210-3933A>G | ENSP00000435329.1:n.-210-3933A>G | |
| ENST00000529861.5:c.*78+1674A>G | ENSP00000432893.1:n.*78+1674A>G | |
| ENST00000530010.5:n.108+1787A>G | ||
| ENST00000530929.5:n.35-3933A>G | ||
| ENST00000533777.5:c.91+1787A>G | ENSP00000431879.1:n.91+1787A>G | |
| ENST00000534038.5:n.156+1787A>G | ||
| ENST00000534268.5:n.484+1434A>G | ||
| ENST00000615999.4:c.55+1787A>G | ENSP00000483303.1:n.55+1787A>G | |
| NM_004390.3:c.91+1787A>G | NP_004381.2:n.91+1787A>G | |
| XM_005254181.2:c.-24+1674A>G | XP_005254238.1:n.-24+1674A>G | |
| XM_011521276.1:c.91+1787A>G | XP_011519578.1:n.91+1787A>G | |
| NM_001319137.1:c.-985+1787A>G | NP_001306066.1:n.-985+1787A>G | |
| NM_004390.4:c.91+1787A>G | NP_004381.2:n.91+1787A>G | |
| XM_017021951.1:c.-102+1787A>G | XP_016877440.1:n.-102+1787A>G | |
| XM_017021952.2:c.-24+1434A>G | XP_016877441.1:n.-24+1434A>G | |
| XM_024449852.1:c.-416+1787A>G | XP_024305620.1:n.-416+1787A>G | |
| XM_024449854.1:c.-847+1787A>G | XP_024305622.1:n.-847+1787A>G | |
| XM_024449855.1:c.-844+1787A>G | XP_024305623.1:n.-844+1787A>G | |
| NM_004390.5:c.91+1787A>G MANE Select | NP_004381.2:n.91+1787A>G | |
| NM_001319137.2:c.-985+1787A>G | NP_001306066.1:n.-985+1787A>G |