gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07745894 (EAS)
Genomes Max Group AF
0.07745894 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20962659A>T , CM000673.2:g.20962659A>T | GRCh38 |
| NC_000011.9:g.20984205A>T , CM000673.1:g.20984205A>T | GRCh37 |
| NC_000011.8:g.20940781A>T | NCBI36 |
| NG_047064.1:g.298109A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.1300+2099A>T MANE Select | ENSP00000349654.5:n.1300+2099A>T | |
| ENST00000298925.9:c.1384+2099A>T | ENSP00000298925.5:n.1384+2099A>T | |
| ENST00000325319.9:c.1129+2099A>T | ENSP00000317837.5:n.1129+2099A>T | |
| ENST00000357134.9:c.1300+2099A>T | ENSP00000349654.5:n.1300+2099A>T | |
| ENST00000530672.1:n.380+2099A>T | ||
| ENST00000532434.5:c.1300+2099A>T | ENSP00000437170.1:n.1300+2099A>T | |
| ENST00000619031.4:c.580+2099A>T | ENSP00000479479.1:n.580+2099A>T | |
| NM_001288713.1:c.1384+2099A>T | NP_001275642.1:n.1384+2099A>T | |
| NM_001288714.1:c.1129+2099A>T | NP_001275643.1:n.1129+2099A>T | |
| NM_006157.4:c.1300+2099A>T | NP_006148.2:n.1300+2099A>T | |
| NM_201551.2:c.1300+2099A>T | NP_963845.1:n.1300+2099A>T | |
| XM_011520119.1:c.343+2099A>T | XP_011518421.1:n.343+2099A>T | |
| NM_006157.5:c.1300+2099A>T MANE Select | NP_006148.2:n.1300+2099A>T |