gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8967873 (AFR)
Genomes Max Group AF
0.8967873 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75184463T>C , CM000667.2:g.75184463T>C | GRCh38 |
| NC_000005.9:g.74480288T>C , CM000667.1:g.74480288T>C | GRCh37 |
| NC_000005.8:g.74516044T>C | NCBI36 |
| NG_053151.1:g.57435A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674120.1:c.*781+4030A>G | ENSP00000501032.1:n.*781+4030A>G | |
| ENST00000274361.3:c.1564+4030A>G | ENSP00000274361.3:n.1564+4030A>G | |
| ENST00000506364.6:c.1564+4030A>G MANE Select | ENSP00000427262.2:n.1564+4030A>G | |
| NM_001164443.1:c.1564+4030A>G | NP_001157915.1:n.1564+4030A>G | |
| XM_011543298.1:c.1567+4030A>G | XP_011541600.1:n.1567+4030A>G | |
| XM_011543299.1:c.1564+4030A>G | XP_011541601.1:n.1564+4030A>G | |
| XM_011543300.1:c.1567+4030A>G | XP_011541602.1:n.1567+4030A>G | |
| XM_011543301.1:c.1567+4030A>G | XP_011541603.1:n.1567+4030A>G | |
| XM_011543302.1:c.1219+4030A>G | XP_011541604.1:n.1219+4030A>G | |
| XM_011543303.1:c.1567+4030A>G | XP_011541605.1:n.1567+4030A>G | |
| XM_011543298.3:c.1567+4030A>G | XP_011541600.1:n.1567+4030A>G | |
| XM_011543300.3:c.1567+4030A>G | XP_011541602.1:n.1567+4030A>G | |
| XM_011543301.3:c.1567+4030A>G | XP_011541603.1:n.1567+4030A>G | |
| XM_011543302.2:c.1219+4030A>G | XP_011541604.1:n.1219+4030A>G | |
| XM_017009317.1:c.1468+4030A>G | XP_016864806.1:n.1468+4030A>G | |
| XM_017009318.2:c.1567+4030A>G | XP_016864807.1:n.1567+4030A>G | |
| XM_017009319.1:c.1276+4030A>G | XP_016864808.1:n.1276+4030A>G | |
| XM_017009320.1:c.1219+4030A>G | XP_016864809.1:n.1219+4030A>G | |
| XM_017009321.1:c.265+4030A>G | XP_016864810.1:n.265+4030A>G | |
| XM_017009322.2:c.1567+4030A>G | XP_016864811.1:n.1567+4030A>G | |
| XM_024446010.1:c.1465+4030A>G | XP_024301778.1:n.1465+4030A>G | |
| XM_024446011.1:c.1177+4030A>G | XP_024301779.1:n.1177+4030A>G | |
| NM_001372053.1:c.1564+4030A>G MANE Select | NP_001358982.1:n.1564+4030A>G |