gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90586402 (EAS)
Genomes Max Group AF
0.90586402 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35202398C>T , CM000673.2:g.35202398C>T | GRCh38 |
| NC_000011.9:g.35223945C>T , CM000673.1:g.35223945C>T | GRCh37 |
| NC_000011.8:g.35180521C>T | NCBI36 |
| NG_008937.1:g.68529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263398.11:c.667+12333C>T | ENSP00000263398.6:n.667+12333C>T | |
| ENST00000428726.8:c.1153+611C>T MANE Select | ENSP00000398632.2:n.1153+611C>T | |
| ENST00000525211.6:c.668-3714C>T | ENSP00000432405.2:n.668-3714C>T | |
| ENST00000525685.6:c.525+4152C>T | ||
| ENST00000526000.6:c.508-8848C>T | ||
| ENST00000526553.6:c.113+1203C>T | ||
| ENST00000527889.6:c.442-5707C>T | ||
| ENST00000531110.6:c.290-2114C>T | ENSP00000436549.2:n.290-2114C>T | |
| ENST00000639002.1:c.59-5788C>T | ENSP00000492449.1:n.59-5788C>T | |
| ENST00000263398.10:c.667+12333C>T | ENSP00000263398.6:n.667+12333C>T | |
| ENST00000278385.10:c.176-5707C>T | ENSP00000278385.6:n.176-5707C>T | |
| ENST00000278386.10:c.234-19307C>T | ENSP00000278386.6:n.234-19307C>T | |
| ENST00000279452.10:c.454+12426C>T | ENSP00000279452.6:n.454+12426C>T | |
| ENST00000352818.8:c.667+12333C>T | ENSP00000309732.6:n.667+12333C>T | |
| ENST00000415148.6:c.1024+611C>T | ENSP00000389830.2:n.1024+611C>T | |
| ENST00000425428.6:c.*290+12333C>T | ENSP00000395953.2:n.*290+12333C>T | |
| ENST00000428726.6:c.1153+611C>T | ENSP00000398632.2:n.1153+611C>T | |
| ENST00000433892.6:c.668-5707C>T | ENSP00000392331.2:n.668-5707C>T | |
| ENST00000434472.6:c.668-8848C>T | ENSP00000404447.2:n.668-8848C>T | |
| ENST00000442151.6:c.665+12333C>T | ||
| ENST00000525211.5:c.605-3714C>T | ENSP00000432405.1:n.605-3714C>T | |
| ENST00000525241.1:n.141-2114C>T | ||
| ENST00000525293.5:n.167+611C>T | ||
| ENST00000525685.5:c.525+4152C>T | ||
| ENST00000525688.5:c.310+4152C>T | ENSP00000436980.1:n.310+4152C>T | |
| ENST00000526000.5:c.509-8848C>T | ENSP00000434465.1:n.509-8848C>T | |
| ENST00000526553.5:c.113+1203C>T | ||
| ENST00000526669.6:c.290-16942C>T | ENSP00000432704.2:n.290-16942C>T | |
| ENST00000527889.5:c.442-5707C>T | ||
| ENST00000528086.5:n.501-5739C>T | ||
| ENST00000528672.1:c.109+611C>T | ENSP00000431860.1:n.109+611C>T | |
| ENST00000531110.5:c.290-2114C>T | ENSP00000436549.1:n.290-2114C>T | |
| ENST00000531873.5:c.430-7567C>T | ||
| ENST00000533222.5:c.292+4152C>T | ENSP00000435321.1:n.292+4152C>T | |
| ENST00000534082.1:n.172+611C>T | ||
| ENST00000534296.5:n.465+611C>T | ||
| NM_000610.3:c.1153+611C>T | NP_000601.3:n.1153+611C>T | |
| NM_001001389.1:c.1024+611C>T | NP_001001389.1:n.1024+611C>T | |
| NM_001001390.1:c.668-5707C>T | NP_001001390.1:n.668-5707C>T | |
| NM_001001391.1:c.667+12333C>T | NP_001001391.1:n.667+12333C>T | |
| NM_001001392.1:c.234-19307C>T | NP_001001392.1:n.234-19307C>T | |
| NM_001202555.1:c.668-8848C>T | NP_001189484.1:n.668-8848C>T | |
| NM_001202556.1:c.667+12333C>T | NP_001189485.1:n.667+12333C>T | |
| NM_001202557.1:c.667+12333C>T | NP_001189486.1:n.667+12333C>T | |
| XM_005253231.2:c.1156+611C>T | XP_005253288.1:n.1156+611C>T | |
| XM_005253232.2:c.1156+611C>T | XP_005253289.1:n.1156+611C>T | |
| XM_005253233.2:c.1036+1203C>T | XP_005253290.1:n.1036+1203C>T | |
| XM_005253234.2:c.1036+1203C>T | XP_005253291.1:n.1036+1203C>T | |
| XM_005253235.2:c.1027+611C>T | XP_005253292.1:n.1027+611C>T | |
| XM_005253238.2:c.668-2114C>T | XP_005253295.1:n.668-2114C>T | |
| XM_005253239.2:c.922+4152C>T | XP_005253296.1:n.922+4152C>T | |
| XM_005253240.2:c.793+4152C>T | XP_005253297.1:n.793+4152C>T | |
| XM_006718388.1:c.1153+611C>T | XP_006718451.1:n.1153+611C>T | |
| XM_011520482.1:c.1156+611C>T | XP_011518784.1:n.1156+611C>T | |
| XM_011520483.1:c.901+611C>T | XP_011518785.1:n.901+611C>T | |
| XM_011520484.1:c.898+611C>T | XP_011518786.1:n.898+611C>T | |
| XM_011520485.1:c.898+611C>T | XP_011518787.1:n.898+611C>T | |
| XM_011520486.1:c.668-3714C>T | XP_011518788.1:n.668-3714C>T | |
| XM_011520487.1:c.1156+611C>T | XP_011518789.1:n.1156+611C>T | |
| XM_011520488.1:c.668-5707C>T | XP_011518790.1:n.668-5707C>T | |
| XM_011520489.1:c.1024+611C>T | XP_011518791.1:n.1024+611C>T | |
| XM_005253231.3:c.1156+611C>T | XP_005253288.1:n.1156+611C>T | |
| XM_005253232.3:c.1156+611C>T | XP_005253289.1:n.1156+611C>T | |
| XM_005253235.3:c.1027+611C>T | XP_005253292.1:n.1027+611C>T | |
| XM_005253238.3:c.668-2114C>T | XP_005253295.1:n.668-2114C>T | |
| XM_005253239.3:c.922+4152C>T | XP_005253296.1:n.922+4152C>T | |
| XM_005253240.3:c.793+4152C>T | XP_005253297.1:n.793+4152C>T | |
| XM_006718388.2:c.1153+611C>T | XP_006718451.1:n.1153+611C>T | |
| XM_011520482.2:c.1156+611C>T | XP_011518784.1:n.1156+611C>T | |
| XM_011520483.2:c.901+611C>T | XP_011518785.1:n.901+611C>T | |
| XM_011520484.2:c.898+611C>T | XP_011518786.1:n.898+611C>T | |
| XM_011520485.2:c.898+611C>T | XP_011518787.1:n.898+611C>T | |
| XM_011520486.2:c.668-3714C>T | XP_011518788.1:n.668-3714C>T | |
| XM_011520487.3:c.1156+611C>T | XP_011518789.1:n.1156+611C>T | |
| XM_011520488.2:c.668-5707C>T | XP_011518790.1:n.668-5707C>T | |
| XM_011520489.3:c.1024+611C>T | XP_011518791.1:n.1024+611C>T | |
| XM_017018583.2:c.1156+611C>T | XP_016874072.1:n.1156+611C>T | |
| XM_017018584.2:c.922+4152C>T | XP_016874073.1:n.922+4152C>T | |
| XM_017018585.2:c.793+4152C>T | XP_016874074.1:n.793+4152C>T | |
| NM_000610.4:c.1153+611C>T MANE Select | NP_000601.3:n.1153+611C>T | |
| NM_001001389.2:c.1024+611C>T | NP_001001389.1:n.1024+611C>T | |
| NM_001001390.2:c.668-5707C>T | NP_001001390.1:n.668-5707C>T | |
| NM_001001391.2:c.667+12333C>T | NP_001001391.1:n.667+12333C>T | |
| NM_001001392.2:c.234-19307C>T | NP_001001392.1:n.234-19307C>T | |
| NM_001202555.2:c.668-8848C>T | NP_001189484.1:n.668-8848C>T | |
| NM_001202556.2:c.667+12333C>T | NP_001189485.1:n.667+12333C>T | |
| NM_001202557.2:c.667+12333C>T | NP_001189486.1:n.667+12333C>T |