gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92700011 (EAS)
Genomes Max Group AF
0.92700011 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65646424G>A , CM000679.2:g.65646424G>A | GRCh38 |
| NC_000017.10:g.63642542G>A , CM000679.1:g.63642542G>A | GRCh37 |
| NC_000017.9:g.61073004G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706790.1:c.*1941-5359C>T | ENSP00000516553.1:n.*1941-5359C>T | |
| ENST00000706791.1:c.*2196-5359C>T | ENSP00000516554.1:n.*2196-5359C>T | |
| ENST00000706792.1:c.*1583-5359C>T | ENSP00000516555.1:n.*1583-5359C>T | |
| ENST00000706793.1:c.2494-5359C>T | ENSP00000516556.1:n.2494-5359C>T | |
| ENST00000706794.1:c.2545-5359C>T | ENSP00000516557.1:n.2545-5359C>T | |
| ENST00000706795.1:c.2557-5359C>T | ENSP00000516558.1:n.2557-5359C>T | |
| ENST00000535342.7:c.2698-5359C>T MANE Select | ENSP00000442784.2:n.2698-5359C>T | |
| ENST00000317442.12:c.466-5359C>T | ENSP00000320592.5:n.466-5359C>T | |
| ENST00000392769.6:c.2698-5359C>T | ENSP00000376522.2:n.2698-5359C>T | |
| ENST00000535342.6:c.2698-5359C>T | ENSP00000442784.2:n.2698-5359C>T | |
| ENST00000537949.5:c.2572-5359C>T | ENSP00000440775.1:n.2572-5359C>T | |
| ENST00000580694.5:n.725-5359C>T | ||
| ENST00000581734.5:c.227-5359C>T | ENSP00000462567.1:n.227-5359C>T | |
| ENST00000581739.5:c.250-9236C>T | ENSP00000464597.1:n.250-9236C>T | |
| ENST00000582795.5:n.570-5359C>T | ||
| ENST00000583466.5:n.178-5359C>T | ||
| NM_001037325.2:c.466-5359C>T | NP_001032402.1:n.466-5359C>T | |
| NM_001199165.2:c.2698-5359C>T | NP_001186094.1:n.2698-5359C>T | |
| NM_001302891.1:c.2572-5359C>T | NP_001289820.1:n.2572-5359C>T | |
| NR_126542.1:n.540-5359C>T | ||
| XM_005257119.3:c.2701-5359C>T | XP_005257176.1:n.2701-5359C>T | |
| XM_005257125.3:c.1777-5359C>T | XP_005257182.1:n.1777-5359C>T | |
| XM_005257126.3:c.1474-5359C>T | XP_005257183.1:n.1474-5359C>T | |
| XM_006721740.2:c.2701-5359C>T | XP_006721803.1:n.2701-5359C>T | |
| XM_006721741.2:c.2557-5359C>T | XP_006721804.1:n.2557-5359C>T | |
| XM_011524461.1:c.2698-5359C>T | XP_011522763.1:n.2698-5359C>T | |
| XM_011524464.1:c.2488-5359C>T | XP_011522766.1:n.2488-5359C>T | |
| XM_011524465.1:c.2008-5359C>T | XP_011522767.1:n.2008-5359C>T | |
| XM_011524466.1:c.1642-5359C>T | XP_011522768.1:n.1642-5359C>T | |
| XM_011524467.1:c.1483-5359C>T | XP_011522769.1:n.1483-5359C>T | |
| XR_934412.1:n.3013-5359C>T | ||
| NM_001199165.3:c.2698-5359C>T | NP_001186094.1:n.2698-5359C>T | |
| NM_001302891.2:c.2572-5359C>T | NP_001289820.1:n.2572-5359C>T | |
| NM_001353127.1:c.2698-5359C>T | NP_001340056.1:n.2698-5359C>T | |
| NM_001353128.1:c.2572-5359C>T | NP_001340057.1:n.2572-5359C>T | |
| NM_001353129.1:c.2701-5359C>T | NP_001340058.1:n.2701-5359C>T | |
| XM_005257119.5:c.2701-5359C>T | XP_005257176.1:n.2701-5359C>T | |
| XM_005257126.4:c.1474-5359C>T | XP_005257183.1:n.1474-5359C>T | |
| XM_011524464.3:c.2488-5359C>T | XP_011522766.1:n.2488-5359C>T | |
| XM_011524465.2:c.2008-5359C>T | XP_011522767.1:n.2008-5359C>T | |
| XM_011524466.2:c.1642-5359C>T | XP_011522768.1:n.1642-5359C>T | |
| XM_011524467.2:c.1483-5359C>T | XP_011522769.1:n.1483-5359C>T | |
| XM_024450634.1:c.2008-5359C>T | XP_024306402.1:n.2008-5359C>T | |
| XR_001752444.1:n.3150-5359C>T | ||
| XR_934412.2:n.3016-5359C>T | ||
| NM_001199165.4:c.2698-5359C>T MANE Select | NP_001186094.1:n.2698-5359C>T | |
| NM_001037325.3:c.466-5359C>T | NP_001032402.1:n.466-5359C>T | |
| NM_001302891.3:c.2572-5359C>T | NP_001289820.1:n.2572-5359C>T | |
| NM_001353128.2:c.2572-5359C>T | NP_001340057.1:n.2572-5359C>T | |
| NM_001353129.2:c.2701-5359C>T | NP_001340058.1:n.2701-5359C>T | |
| NR_126542.2:n.448-5359C>T | ||
| NM_001353127.2:c.2698-5359C>T | NP_001340056.1:n.2698-5359C>T |