gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46464744 (NFE)
Genomes Max Group AF
0.46464744 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47419962G>A , CM000673.2:g.47419962G>A | GRCh38 |
| NC_000011.9:g.47441513G>A , CM000673.1:g.47441513G>A | GRCh37 |
| NC_000011.8:g.47398089G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298852.8:c.1127+302C>T MANE Select | ENSP00000298852.3:n.1127+302C>T | |
| ENST00000298852.7:c.1127+302C>T | ENSP00000298852.3:n.1127+302C>T | |
| ENST00000530912.5:c.1001+302C>T | ENSP00000433097.1:n.1001+302C>T | |
| ENST00000602866.5:c.1079+302C>T | ENSP00000473652.1:n.1079+302C>T | |
| ENST00000619920.4:c.1127+302C>T | ENSP00000481029.1:n.1127+302C>T | |
| NM_002804.4:c.1127+302C>T | NP_002795.2:n.1127+302C>T | |
| XM_011520232.1:c.1022+302C>T | XP_011518534.1:n.1022+302C>T | |
| XM_011520233.1:c.1199+302C>T | XP_011518535.1:n.1199+302C>T | |
| XM_017018026.1:c.1127+302C>T | XP_016873515.1:n.1127+302C>T | |
| NM_002804.5:c.1127+302C>T MANE Select | NP_002795.2:n.1127+302C>T |