gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99813843 (NFE)
Genomes Max Group AF
0.99304285 (NFE)
Exomes Max Group AF
0.998112 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31180161A>G , CM000678.2:g.31180161A>G | GRCh38 |
| NC_000016.9:g.31191482A>G , CM000678.1:g.31191482A>G | GRCh37 |
| NC_000016.8:g.31098983A>G | NCBI36 |
| NG_012889.2:g.5030A>G , LRG_655:g.5030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.-54A>G MANE Select | ENSP00000254108.8:n.-54A>G | |
| ENST00000254108.11:c.-54A>G | ENSP00000254108.7:n.-54A>G | |
| ENST00000380244.7:c.-54A>G | ENSP00000369594.3:n.-54A>G | |
| ENST00000487045.6:n.23A>G | ||
| ENST00000487509.6:n.12A>G | ||
| ENST00000566605.5:c.-54A>G | ENSP00000455073.1:n.-54A>G | |
| ENST00000568685.1:c.-54A>G | ENSP00000455282.1:n.-54A>G | |
| NM_001170634.1:c.-54A>G | NP_001164105.1:n.-54A>G | |
| NM_001170937.1:c.-54A>G | NP_001164408.1:n.-54A>G | |
| NM_004960.3:c.-54A>G , LRG_655t1:c.-54A>G | NP_004951.1:n.-54A>G | |
| NR_028388.2:n.52A>G | ||
| XM_005255233.3:c.-631A>G | XP_005255290.1:n.-631A>G | |
| XM_011545781.1:c.-54A>G | XP_011544083.1:n.-54A>G | |
| XM_005255233.5:c.-631A>G | XP_005255290.1:n.-631A>G | |
| XM_024450221.1:c.-54A>G | XP_024305989.1:n.-54A>G | |
| NM_004960.4:c.-54A>G MANE Select | NP_004951.1:n.-54A>G |