gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46886424A>C , CM000673.2:g.46886424A>C | GRCh38 |
| NC_000011.9:g.46907975A>C , CM000673.1:g.46907975A>C | GRCh37 |
| NC_000011.8:g.46864551A>C | NCBI36 |
| NG_021394.1:g.37199T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.2325T>G MANE Select | ENSP00000367888.1:p.Ala775= | |
| ENST00000378623.5:c.2325T>G | ENSP00000367888.1:p.Ala775= | |
| ENST00000529921.1:n.356T>G | ||
| NM_002334.3:c.2325T>G | NP_002325.2:p.Ala775= | |
| XM_011520102.1:c.2538T>G | XP_011518404.1:p.Ala846= | |
| XM_011520103.1:c.1521T>G | XP_011518405.1:p.Ala507= | |
| XM_011520104.1:c.90T>G | XP_011518406.1:p.Ala30= | |
| XM_011520103.2:c.1521T>G | XP_011518405.1:p.Ala507= | |
| XM_011520104.2:c.90T>G | XP_011518406.1:p.Ala30= | |
| XM_017017734.1:c.2325T>G | XP_016873223.1:p.Ala775= | |
| NM_002334.4:c.2325T>G MANE Select | NP_002325.2:p.Ala775= |