gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78517786 (EAS)
Genomes Max Group AF
0.78517786 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48069751T>G , CM000673.2:g.48069751T>G | GRCh38 |
| NC_000011.9:g.48091303T>G , CM000673.1:g.48091303T>G | GRCh37 |
| NC_000011.8:g.48047879T>G | NCBI36 |
| NG_012209.1:g.94194T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.439-40307T>G | ENSP00000514003.1:n.439-40307T>G | |
| ENST00000418331.7:c.97-40307T>G MANE Select | ENSP00000400010.2:n.97-40307T>G | |
| ENST00000418331.6:c.97-40307T>G | ENSP00000400010.2:n.97-40307T>G | |
| ENST00000440289.6:c.97-40307T>G | ENSP00000409733.2:n.97-40307T>G | |
| ENST00000526550.1:n.170+23420T>G | ||
| ENST00000527952.1:c.97-40307T>G | ENSP00000435618.1:n.97-40307T>G | |
| ENST00000534219.5:c.97-40307T>G | ENSP00000432686.1:n.97-40307T>G | |
| ENST00000613246.4:c.97-40307T>G | ENSP00000477933.1:n.97-40307T>G | |
| ENST00000615445.4:c.97-40307T>G | ENSP00000479342.1:n.97-40307T>G | |
| NM_001098503.1:c.97-40307T>G | NP_001091973.1:n.97-40307T>G | |
| NM_002843.3:c.97-40307T>G | NP_002834.3:n.97-40307T>G | |
| XR_930883.1:n.447-40307T>G | ||
| XM_017018083.1:c.439-40307T>G | XP_016873572.1:n.439-40307T>G | |
| XM_017018084.1:c.118-40307T>G | XP_016873573.1:n.118-40307T>G | |
| XM_017018085.1:c.49-40307T>G | XP_016873574.1:n.49-40307T>G | |
| XR_930883.2:n.506-40307T>G | ||
| NM_002843.4:c.97-40307T>G MANE Select | NP_002834.3:n.97-40307T>G | |
| NM_001098503.2:c.97-40307T>G | NP_001091973.1:n.97-40307T>G |