gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69791925 (EAS)
Genomes Max Group AF
0.69791925 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85802650T>C , CM000678.2:g.85802650T>C | GRCh38 |
| NC_000016.9:g.85836256T>C , CM000678.1:g.85836256T>C | GRCh37 |
| NC_000016.8:g.84393757T>C | NCBI36 |
| NG_042280.1:g.8084T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253452.8:c.73+1372T>C MANE Select | ENSP00000253452.2:n.73+1372T>C | |
| ENST00000253452.6:c.73+1372T>C | ENSP00000253452.2:n.73+1372T>C | |
| ENST00000561569.5:c.73+1372T>C | ENSP00000457015.1:n.73+1372T>C | |
| ENST00000562336.5:c.73+1372T>C | ENSP00000457513.1:n.73+1372T>C | |
| ENST00000563774.1:n.152+1372T>C | ||
| ENST00000564544.1:c.73+1372T>C | ENSP00000456452.1:n.73+1372T>C | |
| ENST00000564648.1:n.77+1372T>C | ||
| ENST00000564903.1:c.73+1372T>C | ENSP00000454714.1:n.73+1372T>C | |
| ENST00000565078.5:c.73+1372T>C | ENSP00000454869.1:n.73+1372T>C | |
| ENST00000566115.5:c.73+1372T>C | ENSP00000455437.1:n.73+1372T>C | |
| ENST00000566405.5:c.-38+1372T>C | ENSP00000455301.1:n.-38+1372T>C | |
| ENST00000566617.1:n.199+1372T>C | ||
| ENST00000567241.5:n.173+1372T>C | ||
| ENST00000567266.5:n.57-2287T>C | ||
| ENST00000568339.5:n.205+1372T>C | ||
| ENST00000568794.5:c.73+1372T>C | ENSP00000455030.1:n.73+1372T>C | |
| ENST00000570123.5:n.215+1372T>C | ||
| NM_001861.3:c.73+1372T>C | NP_001852.1:n.73+1372T>C | |
| XM_005255798.1:c.73+1372T>C | XP_005255855.1:n.73+1372T>C | |
| XM_011522871.1:c.91+1372T>C | XP_011521173.1:n.91+1372T>C | |
| NM_001318786.1:c.73+1372T>C | NP_001305715.1:n.73+1372T>C | |
| NM_001318788.1:c.73+1372T>C | NP_001305717.1:n.73+1372T>C | |
| NM_001318794.1:c.73+1372T>C | NP_001305723.1:n.73+1372T>C | |
| NM_001318797.1:c.-38+1372T>C | NP_001305726.1:n.-38+1372T>C | |
| NM_001318802.1:c.-154+1372T>C | NP_001305731.1:n.-154+1372T>C | |
| NM_001861.4:c.73+1372T>C | NP_001852.1:n.73+1372T>C | |
| XM_024450156.1:c.91+1372T>C | XP_024305924.1:n.91+1372T>C | |
| NM_001318786.2:c.73+1372T>C | NP_001305715.1:n.73+1372T>C | |
| NM_001318788.2:c.73+1372T>C | NP_001305717.1:n.73+1372T>C | |
| NM_001318794.2:c.73+1372T>C | NP_001305723.1:n.73+1372T>C | |
| NM_001318797.2:c.-38+1372T>C | NP_001305726.1:n.-38+1372T>C | |
| NM_001318802.2:c.-154+1372T>C | NP_001305731.1:n.-154+1372T>C | |
| NM_001861.6:c.73+1372T>C MANE Select | NP_001852.1:n.73+1372T>C | |
| NM_001318786.3:c.73+1372T>C | NP_001305715.1:n.73+1372T>C | |
| NM_001318797.3:c.-38+1372T>C | NP_001305726.1:n.-38+1372T>C |