gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01811122 (EAS)
Genomes Max Group AF
0.00974056 (EAS)
Exomes Max Group AF
0.01926935 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413820T>C , CM000682.2:g.10413820T>C | GRCh38 |
| NC_000020.10:g.10394468T>C , CM000682.1:g.10394468T>C | GRCh37 |
| NC_000020.9:g.10342468T>C | NCBI36 |
| NG_009109.1:g.25399A>G | |
| NG_009109.2:g.25399A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649912.2:c.*130A>G | ENSP00000497510.1:n.*130A>G | |
| ENST00000713549.1:c.68A>G | ENSP00000518845.1:p.His23Arg | |
| ENST00000651692.1:c.-306A>G | ENSP00000498849.1:n.-306A>G | |
| ENST00000652676.1:n.434A>G | ||
| ENST00000347364.7:c.-306A>G MANE Select | ENSP00000246062.4:n.-306A>G | |
| ENST00000399054.6:c.-306A>G | ENSP00000382008.2:n.-306A>G | |
| ENST00000609375.1:c.*130A>G | ENSP00000477297.1:n.*130A>G | |
| NM_018848.3:c.-306A>G | NP_061336.1:n.-306A>G | |
| NM_170784.2:c.-306A>G | NP_740754.1:n.-306A>G | |
| NR_072977.1:n.364-5017A>G | ||
| NR_072977.2:n.347-5017A>G | ||
| NM_001394148.1:c.*130A>G | NP_001381077.1:n.*130A>G | |
| NM_001394149.1:c.68A>G | NP_001381078.1:p.His23Arg | |
| NM_170784.3:c.-306A>G MANE Select | NP_740754.1:n.-306A>G |