gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3876207 (AFR)
Genomes Max Group AF
0.39026504 (AFR)
Exomes Max Group AF
0.36798767 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119393632A>G , CM000667.2:g.119393632A>G | GRCh38 |
| NC_000005.9:g.118729327A>G , CM000667.1:g.118729327A>G | GRCh37 |
| NC_000005.8:g.118757226A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504771.3:c.*251A>G MANE Select | ENSP00000422245.1:n.*251A>G | |
| ENST00000415806.2:c.*847A>G | ENSP00000408534.2:n.*847A>G | |
| ENST00000503646.1:c.*251A>G | ENSP00000421848.1:n.*251A>G | |
| ENST00000504771.2:c.*251A>G | ENSP00000422245.1:n.*251A>G | |
| ENST00000513374.1:c.*251A>G | ENSP00000427424.1:n.*251A>G | |
| NM_001077654.2:c.*251A>G | NP_001071122.1:n.*251A>G | |
| NM_001286813.1:c.*251A>G | NP_001273742.1:n.*251A>G | |
| NM_001286814.1:c.*251A>G | NP_001273743.1:n.*251A>G | |
| NM_001286815.1:c.*251A>G | NP_001273744.1:n.*251A>G | |
| NM_001286817.1:c.*251A>G | NP_001273746.1:n.*251A>G | |
| NM_014350.3:c.*251A>G | NP_055165.2:n.*251A>G | |
| XM_017009327.1:c.*251A>G | XP_016864816.1:n.*251A>G | |
| XM_017009328.1:c.*251A>G | XP_016864817.1:n.*251A>G | |
| NM_014350.4:c.*251A>G MANE Select | NP_055165.2:n.*251A>G | |
| NM_001077654.3:c.*251A>G | NP_001071122.1:n.*251A>G | |
| NM_001286813.2:c.*251A>G | NP_001273742.1:n.*251A>G | |
| NM_001286815.2:c.*251A>G | NP_001273744.1:n.*251A>G | |
| NM_001286817.2:c.*251A>G | NP_001273746.1:n.*251A>G |