gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52536501 (SAS)
Genomes Max Group AF
0.52378268 (SAS)
Exomes Max Group AF
0.49401307 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45135596G>T , CM000679.2:g.45135596G>T | GRCh38 |
| NC_000017.10:g.43212963G>T , CM000679.1:g.43212963G>T | GRCh37 |
| NC_000017.9:g.40568489G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431281.5:c.-150G>T | ENSP00000405969.1:n.-150G>T | |
| ENST00000586279.1:n.462G>T | ||
| ENST00000587111.5:n.482+4G>T | ||
| ENST00000587976.5:n.320G>T | ||
| ENST00000591859.5:c.-153+4G>T | ENSP00000465610.1:n.-153+4G>T | |
| ENST00000619916.4:c.-150G>T | ENSP00000482750.1:n.-150G>T | |
| NM_001135704.1:c.-150G>T | NP_001129176.1:n.-150G>T | |
| XM_005257673.1:c.-150+4G>T | XP_005257730.1:n.-150+4G>T | |
| XM_005257674.1:c.-153+4G>T | XP_005257731.1:n.-153+4G>T | |
| XM_005257677.1:c.-153+4G>T | XP_005257734.1:n.-153+4G>T | |
| XM_011525256.1:c.-153+4G>T | XP_011523558.1:n.-153+4G>T | |
| NM_001321352.1:c.-153+4G>T | NP_001308281.1:n.-153+4G>T | |
| NM_001321353.1:c.-150+4G>T | NP_001308282.1:n.-150+4G>T | |
| XM_006722085.2:c.-395G>T | XP_006722148.1:n.-395G>T | |
| XM_011525259.2:c.-395G>T | XP_011523561.1:n.-395G>T | |
| XM_011525261.2:c.-395G>T | XP_011523563.1:n.-395G>T | |
| XM_017025084.1:c.-395G>T | XP_016880573.1:n.-395G>T | |
| XM_017025085.1:c.-150+4G>T | XP_016880574.1:n.-150+4G>T | |
| XM_017025086.1:c.-150+4G>T | XP_016880575.1:n.-150+4G>T | |
| XM_017025087.1:c.-395G>T | XP_016880576.1:n.-395G>T | |
| XM_017025088.1:c.-395G>T | XP_016880577.1:n.-395G>T | |
| XM_017025089.2:c.-395G>T | XP_016880578.1:n.-395G>T | |
| XM_017025090.1:c.-395G>T | XP_016880579.1:n.-395G>T | |
| XM_017025091.1:c.-395G>T | XP_016880580.1:n.-395G>T | |
| XM_017025092.2:c.-150+4G>T | XP_016880581.1:n.-150+4G>T | |
| XM_017025093.1:c.-395G>T | XP_016880582.1:n.-395G>T | |
| XM_017025095.1:c.-395G>T | XP_016880584.1:n.-395G>T | |
| XM_017025096.1:c.-395G>T | XP_016880585.1:n.-395G>T | |
| XM_017025097.1:c.-395G>T | XP_016880586.1:n.-395G>T | |
| XM_017025098.1:c.-150+4G>T | XP_016880587.1:n.-150+4G>T | |
| XM_017025099.1:c.-395G>T | XP_016880588.1:n.-395G>T | |
| XM_017025100.1:c.-395G>T | XP_016880589.1:n.-395G>T | |
| XM_017025101.2:c.-395G>T | XP_016880590.1:n.-395G>T | |
| XM_024450950.1:c.-700G>T | XP_024306718.1:n.-700G>T | |
| NM_001321352.2:c.-153+4G>T | NP_001308281.1:n.-153+4G>T | |
| NM_001321353.2:c.-150+4G>T | NP_001308282.1:n.-150+4G>T | |
| NM_001378112.1:c.-700G>T | NP_001365041.1:n.-700G>T |