gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001385 (NFE)
Exomes Max Group AF
0.00001387 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98420160T>G , CM000672.2:g.98420160T>G | GRCh38 |
| NC_000010.10:g.100179917T>G , CM000672.1:g.100179917T>G | GRCh37 |
| NC_000010.9:g.100169907T>G | NCBI36 |
| NG_009646.1:g.31788A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699112.1:c.1384-2A>C | ENSP00000514137.1:n.1384-2A>C | |
| ENST00000699113.1:c.*1100-2A>C | ENSP00000514138.1:n.*1100-2A>C | |
| ENST00000699114.1:n.1631-2A>C | ||
| ENST00000699115.1:c.*321-2A>C | ENSP00000514139.1:n.*321-2A>C | |
| ENST00000699116.1:n.4212-2A>C | ||
| ENST00000699117.1:n.2396-2A>C | ||
| ENST00000699118.1:c.1357-2A>C | ENSP00000514140.1:n.1357-2A>C | |
| ENST00000699119.1:c.*935-2A>C | ENSP00000514141.1:n.*935-2A>C | |
| ENST00000699120.1:c.*1202-2A>C | ENSP00000514142.1:n.*1202-2A>C | |
| ENST00000699121.1:c.*1103-2A>C | ENSP00000514143.1:n.*1103-2A>C | |
| ENST00000699122.1:c.1171-2A>C | ENSP00000514144.1:n.1171-2A>C | |
| ENST00000699123.1:c.*1512-2A>C | ENSP00000514145.1:n.*1512-2A>C | |
| ENST00000699124.1:n.3147-2A>C | ||
| ENST00000699125.1:c.1774-2A>C | ENSP00000514146.1:n.1774-2A>C | |
| ENST00000699126.1:n.3725-2A>C | ||
| ENST00000699127.1:n.2071-2A>C | ||
| ENST00000699128.1:c.*861-2A>C | ENSP00000514147.1:n.*861-2A>C | |
| ENST00000699129.1:c.*967-2A>C | ENSP00000514148.1:n.*967-2A>C | |
| ENST00000699130.1:n.3117-2A>C | ||
| ENST00000699131.1:c.1576-2A>C | ENSP00000514149.1:n.1576-2A>C | |
| ENST00000699132.1:n.4039-2A>C | ||
| ENST00000699133.1:c.1477-2A>C | ENSP00000514150.1:n.1477-2A>C | |
| ENST00000699134.1:c.2002-2A>C | ENSP00000514151.1:n.2002-2A>C | |
| ENST00000699135.1:c.*954-2A>C | ENSP00000514152.1:n.*954-2A>C | |
| ENST00000699136.1:c.1645-2A>C | ENSP00000514153.1:n.1645-2A>C | |
| ENST00000699137.1:c.1357-2A>C | ENSP00000514154.1:n.1357-2A>C | |
| ENST00000699138.1:c.*1202-2A>C | ENSP00000514155.1:n.*1202-2A>C | |
| ENST00000699139.1:c.1483-2A>C | ENSP00000514156.1:n.1483-2A>C | |
| ENST00000699140.1:c.1645-2A>C | ENSP00000514157.1:n.1645-2A>C | |
| ENST00000699141.1:c.*1180-2A>C | ENSP00000514158.1:n.*1180-2A>C | |
| ENST00000699142.1:c.1744-2A>C | ENSP00000514159.1:n.1744-2A>C | |
| ENST00000699143.1:c.*1103-2A>C | ENSP00000514160.1:n.*1103-2A>C | |
| ENST00000699144.1:c.*1202-2A>C | ENSP00000514161.1:n.*1202-2A>C | |
| ENST00000699145.1:c.1744-2A>C | ENSP00000514162.1:n.1744-2A>C | |
| ENST00000699146.1:c.1744-2A>C | ENSP00000514164.1:n.1744-2A>C | |
| ENST00000699147.1:c.*1202-2A>C | ENSP00000514165.1:n.*1202-2A>C | |
| ENST00000699148.1:n.950-2A>C | ||
| ENST00000699159.1:c.*1103-2A>C | ENSP00000514167.1:n.*1103-2A>C | |
| ENST00000361490.9:c.1744-2A>C MANE Select | ENSP00000355310.4:n.1744-2A>C | |
| ENST00000325103.10:c.1744-2A>C | ENSP00000326649.6:n.1744-2A>C | |
| ENST00000361490.8:c.1744-2A>C | ENSP00000355310.4:n.1744-2A>C | |
| ENST00000462743.1:n.210A>C | ||
| ENST00000467246.5:n.1883-2A>C | ||
| ENST00000613394.4:c.1744-2A>C | ENSP00000477926.1:n.1744-2A>C | |
| NM_000195.3:c.1744-2A>C | NP_000186.2:n.1744-2A>C | |
| NM_000195.4:c.1744-2A>C | NP_000186.2:n.1744-2A>C | |
| NM_001311345.1:c.772-2A>C | NP_001298274.1:n.772-2A>C | |
| XM_005269755.2:c.1744-2A>C | XP_005269812.1:n.1744-2A>C | |
| XM_005269756.2:c.1744-2A>C | XP_005269813.1:n.1744-2A>C | |
| XM_005269757.3:c.1744-2A>C | XP_005269814.1:n.1744-2A>C | |
| XM_005269758.1:c.1645-2A>C | XP_005269815.1:n.1645-2A>C | |
| XM_005269759.1:c.1375-2A>C | XP_005269816.1:n.1375-2A>C | |
| XM_005269760.3:c.772-2A>C | XP_005269817.1:n.772-2A>C | |
| XM_005269761.1:c.772-2A>C | XP_005269818.1:n.772-2A>C | |
| XM_006717818.1:c.1483-2A>C | XP_006717881.1:n.1483-2A>C | |
| NM_001322476.1:c.1744-2A>C | NP_001309405.1:n.1744-2A>C | |
| NM_001322477.1:c.1744-2A>C | NP_001309406.1:n.1744-2A>C | |
| NM_001322478.1:c.1645-2A>C | NP_001309407.1:n.1645-2A>C | |
| NM_001322479.1:c.1645-2A>C | NP_001309408.1:n.1645-2A>C | |
| NM_001322480.1:c.1483-2A>C | NP_001309409.1:n.1483-2A>C | |
| NM_001322481.1:c.1483-2A>C | NP_001309410.1:n.1483-2A>C | |
| NM_001322482.1:c.1384-2A>C | NP_001309411.1:n.1384-2A>C | |
| NM_001322483.1:c.1375-2A>C | NP_001309412.1:n.1375-2A>C | |
| NM_001322484.1:c.1375-2A>C | NP_001309413.1:n.1375-2A>C | |
| NM_001322485.1:c.1276-2A>C | NP_001309414.1:n.1276-2A>C | |
| NM_001322487.1:c.772-2A>C | NP_001309416.1:n.772-2A>C | |
| NM_001322489.1:c.772-2A>C | NP_001309418.1:n.772-2A>C | |
| XM_005269757.4:c.1744-2A>C | XP_005269814.1:n.1744-2A>C | |
| XM_017016170.1:c.1384-2A>C | XP_016871659.1:n.1384-2A>C | |
| XM_017016171.2:c.1276-2A>C | XP_016871660.1:n.1276-2A>C | |
| XM_017016172.2:c.772-2A>C | XP_016871661.1:n.772-2A>C | |
| XM_024447971.1:c.1774-2A>C | XP_024303739.1:n.1774-2A>C | |
| XM_024447972.1:c.772-2A>C | XP_024303740.1:n.772-2A>C | |
| XR_001747098.1:n.2013-2A>C | ||
| XR_001747099.2:n.1991-2A>C | ||
| XR_001747101.2:n.1892-2A>C | ||
| NM_000195.5:c.1744-2A>C MANE Select | NP_000186.2:n.1744-2A>C | |
| NM_001311345.2:c.772-2A>C | NP_001298274.1:n.772-2A>C | |
| NM_001322476.2:c.1744-2A>C | NP_001309405.1:n.1744-2A>C | |
| NM_001322477.2:c.1744-2A>C | NP_001309406.1:n.1744-2A>C | |
| NM_001322478.2:c.1645-2A>C | NP_001309407.1:n.1645-2A>C | |
| NM_001322479.2:c.1645-2A>C | NP_001309408.1:n.1645-2A>C | |
| NM_001322480.2:c.1483-2A>C | NP_001309409.1:n.1483-2A>C | |
| NM_001322481.2:c.1483-2A>C | NP_001309410.1:n.1483-2A>C | |
| NM_001322482.2:c.1384-2A>C | NP_001309411.1:n.1384-2A>C | |
| NM_001322483.2:c.1375-2A>C | NP_001309412.1:n.1375-2A>C | |
| NM_001322484.2:c.1375-2A>C | NP_001309413.1:n.1375-2A>C | |
| NM_001322485.2:c.1276-2A>C | NP_001309414.1:n.1276-2A>C | |
| NM_001322487.2:c.772-2A>C | NP_001309416.1:n.772-2A>C | |
| NM_001322489.2:c.772-2A>C | NP_001309418.1:n.772-2A>C |