gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10247583 (NFE)
Genomes Max Group AF
0.10250296 (NFE)
Exomes Max Group AF
0.05167268 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57095926T>C , CM000674.2:g.57095926T>C | GRCh38 |
| NC_000012.11:g.57489709T>C , CM000674.1:g.57489709T>C | GRCh37 |
| NC_000012.10:g.55775976T>C | NCBI36 |
| NG_021272.1:g.20488A>G | |
| NG_021272.2:g.41214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300134.8:c.*646A>G MANE Select | ENSP00000300134.3:n.*646A>G | |
| ENST00000553533.2:c.*646A>G | ENSP00000451546.2:n.*646A>G | |
| ENST00000554764.6:c.*2934A>G | ENSP00000451909.1:n.*2934A>G | |
| ENST00000651176.1:c.*980A>G | ENSP00000498693.1:n.*980A>G | |
| ENST00000300134.7:c.*646A>G | ENSP00000300134.3:n.*646A>G | |
| ENST00000555222.5:n.2163A>G | ||
| NM_001178078.1:c.*646A>G | NP_001171549.1:n.*646A>G | |
| NM_001178079.1:c.*646A>G | NP_001171550.1:n.*646A>G | |
| NM_001178080.1:c.*646A>G | NP_001171551.1:n.*646A>G | |
| NM_001178081.1:c.*646A>G | NP_001171552.1:n.*646A>G | |
| NM_003153.4:c.*646A>G | NP_003144.3:n.*646A>G | |
| NR_033659.1:n.3357A>G | ||
| XM_006719574.1:c.*646A>G | XP_006719637.1:n.*646A>G | |
| XM_006719575.1:c.*646A>G | XP_006719638.1:n.*646A>G | |
| XM_011538703.1:c.*646A>G | XP_011537005.1:n.*646A>G | |
| XM_011538704.1:c.*646A>G | XP_011537006.1:n.*646A>G | |
| XM_011538705.1:c.*646A>G | XP_011537007.1:n.*646A>G | |
| XM_011538706.1:c.*646A>G | XP_011537008.1:n.*646A>G | |
| XM_011538707.1:c.*646A>G | XP_011537009.1:n.*646A>G | |
| XM_011538708.1:c.*646A>G | XP_011537010.1:n.*646A>G | |
| XM_011538709.1:c.*646A>G | XP_011537011.1:n.*646A>G | |
| XM_011538703.3:c.*646A>G | XP_011537005.1:n.*646A>G | |
| XM_011538704.3:c.*646A>G | XP_011537006.1:n.*646A>G | |
| XM_011538705.3:c.*646A>G | XP_011537007.1:n.*646A>G | |
| XM_011538707.3:c.*646A>G | XP_011537009.1:n.*646A>G | |
| XM_011538708.3:c.*646A>G | XP_011537010.1:n.*646A>G | |
| NM_003153.5:c.*646A>G MANE Select | NP_003144.3:n.*646A>G | |
| NM_001178078.2:c.*646A>G | NP_001171549.1:n.*646A>G | |
| NM_001178079.2:c.*646A>G | NP_001171550.1:n.*646A>G | |
| NM_001178080.2:c.*646A>G | NP_001171551.1:n.*646A>G | |
| NM_001178081.2:c.*646A>G | NP_001171552.1:n.*646A>G | |
| NR_033659.2:n.3306A>G |