gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36569837 (NFE)
Genomes Max Group AF
0.36068973 (NFE)
Exomes Max Group AF
0.36580041 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109657738T>C , CM000663.2:g.109657738T>C | GRCh38 |
| NC_000001.10:g.110200360T>C , CM000663.1:g.110200360T>C | GRCh37 |
| NC_000001.9:g.110001883T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369836.9:c.260-34T>C MANE Select | ENSP00000358851.4:n.260-34T>C | |
| ENST00000638994.1:c.260-34T>C | ENSP00000491134.1:n.260-34T>C | |
| ENST00000326729.9:c.260-34T>C | ENSP00000316471.5:n.260-34T>C | |
| ENST00000336075.6:c.260-34T>C | ENSP00000336744.6:n.260-34T>C | |
| ENST00000369833.5:c.137-34T>C | ENSP00000358848.1:n.137-34T>C | |
| ENST00000369836.8:c.260-34T>C | ENSP00000358851.4:n.260-34T>C | |
| ENST00000478397.5:n.133-34T>C | ||
| ENST00000479578.5:n.447-34T>C | ||
| ENST00000485640.5:n.360-34T>C | ||
| ENST00000495742.5:n.316-34T>C | ||
| NM_000850.4:c.260-34T>C | NP_000841.1:n.260-34T>C | |
| NM_147148.2:c.260-34T>C | NP_671489.1:n.260-34T>C | |
| NR_024538.1:n.492-34T>C | ||
| XM_011541297.1:c.260-34T>C | XP_011539599.1:n.260-34T>C | |
| XM_011541298.1:c.-53-34T>C | XP_011539600.1:n.-53-34T>C | |
| XM_017001085.1:c.260-34T>C | XP_016856574.1:n.260-34T>C | |
| XM_017001086.1:c.137-34T>C | XP_016856575.1:n.137-34T>C | |
| XM_017001087.2:c.137-34T>C | XP_016856576.1:n.137-34T>C | |
| XM_017001088.2:c.-53-34T>C | XP_016856577.1:n.-53-34T>C | |
| XM_024446577.1:c.260-34T>C | XP_024302345.1:n.260-34T>C | |
| NM_000850.5:c.260-34T>C MANE Select | NP_000841.1:n.260-34T>C | |
| NM_147148.3:c.260-34T>C | NP_671489.1:n.260-34T>C | |
| NR_024538.2:n.469-34T>C |