gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29656579 (AFR)
Genomes Max Group AF
0.29656579 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133818223A>G , CM000665.2:g.133818223A>G | GRCh38 |
| NC_000003.11:g.133537067A>G , CM000665.1:g.133537067A>G | GRCh37 |
| NC_000003.10:g.135019757A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466490.7:c.602+1291A>G | ENSP00000418401.1:n.602+1291A>G | |
| ENST00000678299.1:c.602+1291A>G MANE Select | ENSP00000503923.1:n.602+1291A>G | |
| ENST00000466490.6:c.602+1291A>G | ENSP00000418401.1:n.602+1291A>G | |
| ENST00000466636.1:c.268+1291A>G | ||
| ENST00000481356.1:n.1130+1291A>G | ||
| ENST00000494297.5:n.504+1291A>G | ||
| NM_021203.3:c.602+1291A>G | NP_067026.3:n.602+1291A>G | |
| NM_021203.4:c.602+1291A>G | NP_067026.3:n.602+1291A>G | |
| NR_163491.1:n.636+1291A>G | ||
| NM_001379313.1:c.602+1291A>G MANE Select | NP_001366242.1:n.602+1291A>G |