gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84588897 (SAS)
Genomes Max Group AF
0.84603517 (SAS)
Exomes Max Group AF
0.62298885 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1629416A>C , CM000682.2:g.1629416A>C | GRCh38 |
| NC_000020.10:g.1610062A>C , CM000682.1:g.1610062A>C | GRCh37 |
| NC_000020.9:g.1558062A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303415.7:c.*223T>G MANE Select | ENSP00000305529.3:n.*223T>G | |
| ENST00000344103.8:c.*223T>G | ENSP00000342759.4:n.*223T>G | |
| ENST00000381580.5:c.*223T>G | ENSP00000370992.1:n.*223T>G | |
| ENST00000381583.6:c.*223T>G | ENSP00000370995.2:n.*223T>G | |
| ENST00000478145.6:n.448T>G | ||
| NM_001039508.1:c.*223T>G | NP_001034597.1:n.*223T>G | |
| NM_018556.3:c.*223T>G | NP_061026.2:n.*223T>G | |
| NM_080816.2:c.*223T>G | NP_543006.2:n.*223T>G | |
| XM_005260749.2:c.*223T>G | XP_005260806.1:n.*223T>G | |
| XM_011529286.1:c.*223T>G | XP_011527588.1:n.*223T>G | |
| XM_005260749.4:c.*223T>G | XP_005260806.1:n.*223T>G | |
| XM_011529286.2:c.*223T>G | XP_011527588.1:n.*223T>G | |
| NM_018556.4:c.*223T>G MANE Select | NP_061026.2:n.*223T>G | |
| NM_080816.3:c.*223T>G | NP_543006.2:n.*223T>G | |
| NM_001039508.2:c.*223T>G | NP_001034597.1:n.*223T>G |