gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85031895 (AFR)
Genomes Max Group AF
0.8433481 (AFR)
Exomes Max Group AF
0.85327538 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43736181A>G , CM000685.2:g.43736181A>G | GRCh38 |
| NC_000023.10:g.43595428A>G , CM000685.1:g.43595428A>G | GRCh37 |
| NC_000023.9:g.43480372A>G | NCBI36 |
| NG_008957.2:g.85021A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.654-46A>G | ENSP00000440846.1:n.654-46A>G | |
| ENST00000686683.1:c.363-46A>G | ENSP00000509063.1:n.363-46A>G | |
| ENST00000686980.1:n.1185-46A>G | ||
| ENST00000688006.1:c.654-46A>G | ENSP00000510311.1:n.654-46A>G | |
| ENST00000688859.1:n.609-46A>G | ||
| ENST00000689087.1:c.654-46A>G | ENSP00000508997.1:n.654-46A>G | |
| ENST00000693128.1:c.948-46A>G | ENSP00000508493.1:n.948-46A>G | |
| ENST00000338702.4:c.1053-46A>G MANE Select | ENSP00000340684.3:n.1053-46A>G | |
| ENST00000338702.3:c.1053-46A>G | ENSP00000340684.3:n.1053-46A>G | |
| ENST00000542639.5:c.654-46A>G | ENSP00000440846.1:n.654-46A>G | |
| NM_000240.3:c.1053-46A>G | NP_000231.1:n.1053-46A>G | |
| NM_001270458.1:c.654-46A>G | NP_001257387.1:n.654-46A>G | |
| NM_000240.4:c.1053-46A>G MANE Select | NP_000231.1:n.1053-46A>G | |
| NM_001270458.2:c.654-46A>G | NP_001257387.1:n.654-46A>G |