gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51423247 (AFR)
Genomes Max Group AF
0.5105081 (AFR)
Exomes Max Group AF
0.51561198 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186741438A>G , CM000665.2:g.186741438A>G | GRCh38 |
| NC_000003.11:g.186459227A>G , CM000665.1:g.186459227A>G | GRCh37 |
| NC_000003.10:g.187941921A>G | NCBI36 |
| NG_016009.1:g.29130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.1126-84A>G | ENSP00000287611.2:n.1126-84A>G | |
| ENST00000644859.2:c.1126-84A>G MANE Select | ENSP00000493985.1:n.1126-84A>G | |
| ENST00000265023.8:c.1126-84A>G | ENSP00000265023.4:n.1126-84A>G | |
| ENST00000287611.6:c.1126-84A>G | ENSP00000287611.2:n.1126-84A>G | |
| ENST00000447445.1:c.1018-84A>G | ENSP00000396025.1:n.1018-84A>G | |
| NM_000893.3:c.1126-84A>G | NP_000884.1:n.1126-84A>G | |
| NM_001102416.2:c.1126-84A>G | NP_001095886.1:n.1126-84A>G | |
| NM_001166451.1:c.1018-84A>G | NP_001159923.1:n.1018-84A>G | |
| NM_000893.4:c.1126-84A>G | NP_000884.1:n.1126-84A>G | |
| NM_001102416.3:c.1126-84A>G MANE Select | NP_001095886.1:n.1126-84A>G | |
| NM_001166451.2:c.1018-84A>G | NP_001159923.1:n.1018-84A>G |