gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08646228 (MID)
Genomes Max Group AF
0.05077552 (SAS)
Exomes Max Group AF
0.08515104 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40981060A>G , CM000674.2:g.40981060A>G | GRCh38 |
| NC_000012.11:g.41374862A>G , CM000674.1:g.41374862A>G | GRCh37 |
| NC_000012.10:g.39661129A>G | NCBI36 |
| NG_012058.2:g.293505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551295.7:c.1956A>G MANE Select | ENSP00000447006.1:p.Ala652= | |
| ENST00000347616.5:c.1956A>G | ENSP00000325660.3:p.Ala652= | |
| ENST00000348761.2:c.1923A>G | ENSP00000261160.3:p.Ala641= | |
| ENST00000551295.6:c.1956A>G | ENSP00000447006.1:p.Ala652= | |
| NM_001843.3:c.1956A>G | NP_001834.2:p.Ala652= | |
| NM_175038.2:c.1923A>G | NP_778203.1:p.Ala641= | |
| XM_005268651.1:c.1956A>G | XP_005268708.1:p.Ala652= | |
| XM_006719241.1:c.1956A>G | XP_006719304.1:p.Ala652= | |
| XM_011537926.1:c.1956A>G | XP_011536228.1:p.Ala652= | |
| XM_011537927.1:c.1956A>G | XP_011536229.1:p.Ala652= | |
| XM_005268651.2:c.1956A>G | XP_005268708.1:p.Ala652= | |
| XM_006719241.2:c.1956A>G | XP_006719304.1:p.Ala652= | |
| XM_011537926.3:c.1956A>G | XP_011536228.1:p.Ala652= | |
| XM_011537927.2:c.1956A>G | XP_011536229.1:p.Ala652= | |
| XR_002957288.1:n.2178A>G | ||
| XR_002957289.1:n.2299A>G | ||
| XR_002957290.1:n.2546A>G | ||
| XR_002957291.1:n.2170A>G | ||
| NM_001843.4:c.1956A>G MANE Select | NP_001834.2:p.Ala652= |