gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00835356 (AFR)
Genomes Max Group AF
0.00746107 (AFR)
Exomes Max Group AF
0.00895255 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927224G>A , CM000663.2:g.42927224G>A | GRCh38 |
| NC_000001.10:g.43392895G>A , CM000663.1:g.43392895G>A | GRCh37 |
| NC_000001.9:g.43165482G>A | NCBI36 |
| NG_008232.1:g.36953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1296C>T MANE Select | ENSP00000416293.2:p.Tyr432= | |
| ENST00000674545.1:n.1913C>T | ||
| ENST00000674765.1:c.1030-367C>T | ENSP00000501811.1:n.1030-367C>T | |
| ENST00000675112.1:n.1597C>T | ||
| ENST00000676254.1:n.1745C>T | ||
| ENST00000426263.7:c.1296C>T | ENSP00000416293.2:p.Tyr432= | |
| ENST00000475162.3:c.416-246C>T | ||
| ENST00000630287.2:c.*611C>T | ENSP00000486694.1:n.*611C>T | |
| NM_006516.2:c.1296C>T | NP_006507.2:p.Tyr432= | |
| NM_006516.3:c.1296C>T | NP_006507.2:p.Tyr432= | |
| NM_006516.4:c.1296C>T MANE Select | NP_006507.2:p.Tyr432= |