gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88190298 (AFR)
Genomes Max Group AF
0.88190298 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.6098029A>G , CM000678.2:g.6098029A>G | GRCh38 |
| NC_000016.9:g.6148030A>G , CM000678.1:g.6148030A>G | GRCh37 |
| NC_000016.8:g.6088031A>G | NCBI36 |
| NG_011881.1:g.83899A>G | |
| NG_011881.2:g.863278A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550418.6:c.-127+78037A>G MANE Select | ENSP00000450031.1:n.-127+78037A>G | |
| ENST00000569895.3:n.437-218966A>G | ||
| ENST00000641259.1:c.352-218966A>G | ENSP00000493041.1:n.352-218966A>G | |
| ENST00000422070.8:c.3+78128A>G | ENSP00000391269.4:n.3+78128A>G | |
| ENST00000547372.5:c.3+78128A>G | ENSP00000446842.1:n.3+78128A>G | |
| ENST00000547605.5:c.-127+78037A>G | ENSP00000450402.1:n.-127+78037A>G | |
| ENST00000548749.5:n.290+78037A>G | ||
| ENST00000550418.5:c.-127+78037A>G | ENSP00000450031.1:n.-127+78037A>G | |
| ENST00000553186.5:c.-127+78037A>G | ENSP00000447753.1:n.-127+78037A>G | |
| NM_001142333.1:c.-127+78037A>G | NP_001135805.1:n.-127+78037A>G | |
| NM_001308117.1:c.3+78128A>G | NP_001295046.1:n.3+78128A>G | |
| NM_018723.3:c.-127+78037A>G | NP_061193.2:n.-127+78037A>G | |
| XM_005255379.2:c.3+78128A>G | XP_005255436.1:n.3+78128A>G | |
| XM_005255384.2:c.-127+78037A>G | XP_005255441.1:n.-127+78037A>G | |
| XM_005255390.2:c.-127+78037A>G | XP_005255447.1:n.-127+78037A>G | |
| XM_011522544.1:c.352-218966A>G | XP_011520846.1:n.352-218966A>G | |
| NM_001364800.1:c.-127+78037A>G | NP_001351729.1:n.-127+78037A>G | |
| XM_005255390.4:c.-127+78037A>G | XP_005255447.1:n.-127+78037A>G | |
| XM_017023318.2:c.472-218966A>G | XP_016878807.1:n.472-218966A>G | |
| XM_017023319.2:c.472-218966A>G | XP_016878808.1:n.472-218966A>G | |
| XM_017023320.2:c.3+78128A>G | XP_016878809.1:n.3+78128A>G | |
| XM_017023324.2:c.3+78128A>G | XP_016878813.1:n.3+78128A>G | |
| XM_017023326.2:c.-127+78037A>G | XP_016878815.1:n.-127+78037A>G | |
| XM_017023328.2:c.3+78128A>G | XP_016878817.1:n.3+78128A>G | |
| XM_017023329.2:c.3+78128A>G | XP_016878818.1:n.3+78128A>G | |
| XM_017023335.2:c.-127+78037A>G | XP_016878824.1:n.-127+78037A>G | |
| XM_017023341.2:c.-127+78037A>G | XP_016878830.1:n.-127+78037A>G | |
| XM_024450303.1:c.433-218966A>G | XP_024306071.1:n.433-218966A>G | |
| XM_024450307.1:c.-127+78037A>G | XP_024306075.1:n.-127+78037A>G | |
| XM_024450309.1:c.3+78128A>G | XP_024306077.1:n.3+78128A>G | |
| XM_024450310.1:c.3+78128A>G | XP_024306078.1:n.3+78128A>G | |
| XM_024450314.1:c.3+78128A>G | XP_024306082.1:n.3+78128A>G | |
| XM_024450316.1:c.-127+78037A>G | XP_024306084.1:n.-127+78037A>G | |
| NM_001142333.2:c.-127+78037A>G | NP_001135805.1:n.-127+78037A>G | |
| NM_001364800.2:c.-127+78037A>G | NP_001351729.1:n.-127+78037A>G | |
| NM_018723.4:c.-127+78037A>G MANE Select | NP_061193.2:n.-127+78037A>G |