gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00278 (NFE)
Genomes Max Group AF
0.0022193 (NFE)
Exomes Max Group AF
0.00279732 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97600168G>T , CM000672.2:g.97600168G>T | GRCh38 |
| NC_000010.10:g.99359925G>T , CM000672.1:g.99359925G>T | GRCh37 |
| NC_000010.9:g.99349915G>T | NCBI36 |
| NG_027922.1:g.20824G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.700+5G>T MANE Select | ENSP00000359680.4:n.700+5G>T | |
| ENST00000370642.4:c.110+5G>T | ||
| ENST00000370646.8:c.700+5G>T | ENSP00000359680.4:n.700+5G>T | |
| ENST00000370647.8:c.212-1689G>T | ENSP00000359681.4:n.212-1689G>T | |
| ENST00000370649.3:c.212-1689G>T | ENSP00000359683.3:n.212-1689G>T | |
| ENST00000465608.1:n.1801G>T | ||
| NM_001134670.1:c.212-1689G>T | NP_001128142.1:n.212-1689G>T | |
| NM_138413.3:c.700+5G>T | NP_612422.2:n.700+5G>T | |
| NM_138413.4:c.700+5G>T MANE Select | NP_612422.2:n.700+5G>T | |
| NM_001134670.2:c.212-1689G>T | NP_001128142.1:n.212-1689G>T |