dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43200813 (EAS)
Genomes Max Group AF
0.43200813 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37133684G>A , CM000684.2:g.37133684G>A | GRCh38 |
| NC_000022.10:g.37529724G>A , CM000684.1:g.37529724G>A | GRCh37 |
| NC_000022.9:g.35859670G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429622.6:c.819-1216C>T | ENSP00000402685.2:n.819-1216C>T | |
| ENST00000445595.2:c.819-1216C>T | ENSP00000401020.2:n.819-1216C>T | |
| ENST00000453962.6:c.819-1216C>T | ENSP00000403731.2:n.819-1216C>T | |
| ENST00000698883.1:c.819-1216C>T | ENSP00000514005.1:n.819-1216C>T | |
| ENST00000698890.1:c.819-1216C>T | ENSP00000514009.1:n.819-1216C>T | |
| ENST00000698891.1:c.*811-1216C>T | ENSP00000514010.1:n.*811-1216C>T | |
| ENST00000698892.1:c.819-1216C>T | ENSP00000514011.1:n.819-1216C>T | |
| ENST00000698893.1:c.819-1216C>T | ENSP00000514012.1:n.819-1216C>T | |
| ENST00000698894.1:c.837-1216C>T | ENSP00000514013.1:n.837-1216C>T | |
| ENST00000698895.1:c.*619-1216C>T | ENSP00000514014.1:n.*619-1216C>T | |
| ENST00000698896.1:c.*578-1216C>T | ENSP00000514015.1:n.*578-1216C>T | |
| ENST00000698902.1:c.816-1216C>T | ENSP00000514017.1:n.816-1216C>T | |
| ENST00000698903.1:c.819-1216C>T | ENSP00000514018.1:n.819-1216C>T | |
| ENST00000698904.1:c.792-1216C>T | ENSP00000514019.1:n.792-1216C>T | |
| ENST00000698905.1:c.819-1223C>T | ENSP00000514020.1:n.819-1223C>T | |
| ENST00000703410.1:c.819-1216C>T | ENSP00000516411.1:n.819-1216C>T | |
| ENST00000216223.10:c.819-1216C>T MANE Select | ENSP00000216223.5:n.819-1216C>T | |
| ENST00000216223.9:c.819-1216C>T | ENSP00000216223.5:n.819-1216C>T | |
| ENST00000483573.1:n.297-1216C>T | ||
| NM_000878.3:c.819-1216C>T | NP_000869.1:n.819-1216C>T | |
| NM_000878.4:c.819-1216C>T | NP_000869.1:n.819-1216C>T | |
| NM_001346222.1:c.819-1216C>T | NP_001333151.1:n.819-1216C>T | |
| NM_001346223.1:c.819-1216C>T | NP_001333152.1:n.819-1216C>T | |
| NM_000878.5:c.819-1216C>T MANE Select | NP_000869.1:n.819-1216C>T | |
| NM_001346223.2:c.819-1216C>T | NP_001333152.1:n.819-1216C>T |