gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07097304 (NFE)
Genomes Max Group AF
0.07097304 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7993230G>T , CM000673.2:g.7993230G>T | GRCh38 |
| NC_000011.9:g.8014777G>T , CM000673.1:g.8014777G>T | GRCh37 |
| NC_000011.8:g.7971353G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528653.2:n.658+206G>T | ||
| ENST00000528763.2:n.408+206G>T | ||
| ENST00000530219.2:n.453+206G>T | ||
| ENST00000531329.6:c.*97+206G>T | ENSP00000432489.2:n.*97+206G>T | |
| ENST00000531572.2:c.653+206G>T | ENSP00000434286.2:n.653+206G>T | |
| ENST00000532882.2:n.2022+206G>T | ||
| ENST00000640290.2:c.*254+206G>T | ENSP00000491198.2:n.*254+206G>T | |
| ENST00000651655.1:c.653+206G>T MANE Select | ENSP00000499218.1:n.653+206G>T | |
| ENST00000677121.1:c.653+206G>T | ENSP00000503130.1:n.653+206G>T | |
| ENST00000677179.1:n.4945+206G>T | ||
| ENST00000677795.1:n.2224+206G>T | ||
| ENST00000677866.1:n.503G>T | ||
| ENST00000678132.1:c.*254+206G>T | ENSP00000504073.1:n.*254+206G>T | |
| ENST00000678993.1:c.*207+206G>T | ENSP00000504201.1:n.*207+206G>T | |
| ENST00000309828.4:c.653+206G>T | ENSP00000310040.4:n.653+206G>T | |
| ENST00000530219.1:n.830+206G>T | ||
| ENST00000531329.5:c.*207+206G>T | ENSP00000432489.1:n.*207+206G>T | |
| ENST00000533626.5:c.653+206G>T | ENSP00000431800.1:n.653+206G>T | |
| NM_003754.2:c.653+206G>T | NP_003745.1:n.653+206G>T | |
| NM_003754.3:c.653+206G>T MANE Select | NP_003745.1:n.653+206G>T |