gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09197837 (NFE)
Genomes Max Group AF
0.09589469 (NFE)
Exomes Max Group AF
0.09162961 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88499935A>G , CM000666.2:g.88499935A>G | GRCh38 |
| NC_000004.11:g.89421086A>G , CM000666.1:g.89421086A>G | GRCh37 |
| NC_000004.10:g.89640109A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264350.8:c.2454A>G MANE Select | ENSP00000264350.3:p.Gln818= | |
| ENST00000264350.7:c.2454A>G | ENSP00000264350.3:p.Gln818= | |
| ENST00000502913.1:n.1175A>G | ||
| ENST00000508159.1:c.1368A>G | ENSP00000424129.1:p.Gln456= | |
| ENST00000510223.5:n.1942A>G | ||
| NM_016323.3:c.2454A>G | NP_057407.2:p.Gln818= | |
| XM_011532022.1:c.2229A>G | XP_011530324.1:p.Gln743= | |
| XM_011532023.1:c.2166A>G | XP_011530325.1:p.Gln722= | |
| XM_011532022.2:c.2682A>G | XP_011530324.2:p.Gln894= | |
| NM_016323.4:c.2454A>G MANE Select | NP_057407.2:p.Gln818= |