gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32352526 (EAS)
Genomes Max Group AF
0.32352526 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191068528G>A , CM000664.2:g.191068528G>A | GRCh38 |
| NC_000002.11:g.191933254G>A , CM000664.1:g.191933254G>A | GRCh37 |
| NC_000002.10:g.191641499G>A | NCBI36 |
| NG_012852.1:g.87672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392320.7:c.544+1165C>T MANE Select | ENSP00000376134.2:n.544+1165C>T | |
| ENST00000647167.1:c.*35C>T | ENSP00000495153.1:n.*35C>T | |
| ENST00000358470.8:c.544+1165C>T | ENSP00000351255.4:n.544+1165C>T | |
| ENST00000392320.6:c.544+1165C>T | ENSP00000376134.2:n.544+1165C>T | |
| ENST00000495849.5:n.612+1165C>T | ||
| NM_001243835.1:c.544+1165C>T | NP_001230764.1:n.544+1165C>T | |
| NM_003151.3:c.544+1165C>T | NP_003142.1:n.544+1165C>T | |
| XM_005246817.3:c.571+1165C>T | XP_005246874.1:n.571+1165C>T | |
| XM_006712719.2:c.544+1165C>T | XP_006712782.1:n.544+1165C>T | |
| XM_011511704.1:c.571+1165C>T | XP_011510006.1:n.571+1165C>T | |
| XM_011511705.1:c.544+1165C>T | XP_011510007.1:n.544+1165C>T | |
| XM_011511706.1:c.571+1165C>T | XP_011510008.1:n.571+1165C>T | |
| XM_006712719.3:c.544+1165C>T | XP_006712782.1:n.544+1165C>T | |
| XM_011511705.2:c.544+1165C>T | XP_011510007.1:n.544+1165C>T | |
| XM_017004784.2:c.544+1165C>T | XP_016860273.1:n.544+1165C>T | |
| NM_003151.4:c.544+1165C>T MANE Select | NP_003142.1:n.544+1165C>T | |
| NM_001243835.2:c.544+1165C>T | NP_001230764.1:n.544+1165C>T |