gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43871372 (AFR)
Genomes Max Group AF
0.43100123 (AFR)
Exomes Max Group AF
0.44606255 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149833893A>G , CM000667.2:g.149833893A>G | GRCh38 |
| NC_000005.9:g.149213456A>G , CM000667.1:g.149213456A>G | GRCh37 |
| NC_000005.8:g.149193649A>G | NCBI36 |
| NG_016747.1:g.108642A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309241.10:c.1705+115A>G MANE Select | ENSP00000312649.5:n.1705+115A>G | |
| ENST00000309241.9:c.1705+115A>G | ENSP00000312649.5:n.1705+115A>G | |
| ENST00000360453.8:c.1588+115A>G | ENSP00000353638.4:n.1588+115A>G | |
| ENST00000394320.7:c.1705+115A>G | ENSP00000377855.3:n.1705+115A>G | |
| ENST00000403750.5:c.1513+115A>G | ENSP00000384403.1:n.1513+115A>G | |
| ENST00000434684.1:c.764+115A>G | ||
| NM_001172698.1:c.1588+115A>G | NP_001166169.1:n.1588+115A>G | |
| NM_001172699.1:c.1513+115A>G | NP_001166170.1:n.1513+115A>G | |
| NM_133263.3:c.1705+115A>G | NP_573570.3:n.1705+115A>G | |
| XM_005268372.3:c.1642+115A>G | XP_005268429.1:n.1642+115A>G | |
| XM_011537553.1:c.1705+115A>G | XP_011535855.1:n.1705+115A>G | |
| XM_011537554.1:c.1642+115A>G | XP_011535856.1:n.1642+115A>G | |
| XM_011537555.1:c.1588+115A>G | XP_011535857.1:n.1588+115A>G | |
| XM_011537556.1:c.1093+115A>G | XP_011535858.1:n.1093+115A>G | |
| XM_011537557.1:c.1705+115A>G | XP_011535859.1:n.1705+115A>G | |
| XM_005268372.4:c.1642+115A>G | XP_005268429.1:n.1642+115A>G | |
| XM_011537553.2:c.1705+115A>G | XP_011535855.1:n.1705+115A>G | |
| XM_011537554.2:c.1642+115A>G | XP_011535856.1:n.1642+115A>G | |
| XM_011537555.2:c.1588+115A>G | XP_011535857.1:n.1588+115A>G | |
| XM_011537556.2:c.1093+115A>G | XP_011535858.1:n.1093+115A>G | |
| NM_133263.4:c.1705+115A>G MANE Select | NP_573570.3:n.1705+115A>G | |
| NM_001172698.2:c.1588+115A>G | NP_001166169.1:n.1588+115A>G | |
| NM_001172699.2:c.1513+115A>G | NP_001166170.1:n.1513+115A>G |