gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35601968 (AMR)
Genomes Max Group AF
0.35263862 (AMR)
Exomes Max Group AF
0.35600161 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286809A>G , CM000666.2:g.80286809A>G | GRCh38 |
| NC_000004.11:g.81207963A>G , CM000666.1:g.81207963A>G | GRCh37 |
| NC_000004.10:g.81426987A>G | NCBI36 |
| NG_029501.1:g.25222A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.*137A>G MANE Select | ENSP00000311697.7:n.*137A>G | |
| ENST00000312465.11:c.*137A>G | ENSP00000311697.7:n.*137A>G | |
| ENST00000456523.3:c.*468A>G | ENSP00000398353.3:n.*468A>G | |
| ENST00000503413.1:n.893A>G | ||
| ENST00000507780.1:c.342+11797A>G | ENSP00000423903.1:n.342+11797A>G | |
| NM_001291812.1:c.*137A>G | NP_001278741.1:n.*137A>G | |
| NM_004464.3:c.*137A>G | NP_004455.2:n.*137A>G | |
| NM_033143.2:c.*468A>G | NP_149134.1:n.*468A>G | |
| NM_001291812.2:c.*137A>G | NP_001278741.1:n.*137A>G | |
| NM_004464.4:c.*137A>G MANE Select | NP_004455.2:n.*137A>G |