gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30901098 (NFE)
Genomes Max Group AF
0.31514001 (NFE)
Exomes Max Group AF
0.28958109 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30057726G>A , CM000668.2:g.30057726G>A | GRCh38 |
| NC_000006.11:g.30025503G>A , CM000668.1:g.30025503G>A | GRCh37 |
| NC_000006.10:g.30133482G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700857.1:n.905C>T | ||
| ENST00000701313.1:n.431+389C>T | ||
| ENST00000701715.1:n.171+389C>T | ||
| ENST00000701769.1:n.668C>T | ||
| ENST00000701772.1:n.799C>T | ||
| ENST00000702304.1:n.410+389C>T | ||
| ENST00000685581.1:n.496+389C>T | ||
| ENST00000688495.1:n.360+389C>T | ||
| ENST00000690840.1:n.289-9C>T | ||
| ENST00000376797.7:n.259+389C>T | ||
| ENST00000420251.5:n.437+389C>T | ||
| ENST00000421692.5:n.526-9C>T | ||
| ENST00000422224.5:n.456+389C>T | ||
| ENST00000425604.5:n.264+389C>T | ||
| ENST00000431012.5:n.178-9C>T | ||
| ENST00000437417.5:n.976+389C>T | ||
| ENST00000448093.5:n.479+389C>T | ||
| ENST00000452229.2:n.442-9C>T | ||
| ENST00000637794.1:n.322-9C>T | ||
| NR_026751.1:n.437+389C>T | ||
| NR_026751.2:n.442+389C>T | ||
| NR_145416.1:n.442+389C>T | ||
| NR_145417.1:n.442-9C>T | ||
| NR_145418.1:n.188-9C>T |