dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13769716 (AFR)
Genomes Max Group AF
0.13769716 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31903079C>T , CM000668.2:g.31903079C>T | GRCh38 |
| NC_000006.11:g.31870856C>T , CM000668.1:g.31870856C>T | GRCh37 |
| NC_000006.10:g.31978835C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452323.7:c.73+1940C>T | ENSP00000392322.2:n.73+1940C>T | |
| ENST00000497706.6:c.-64+5137C>T | ENSP00000417482.2:n.-64+5137C>T | |
| ENST00000695637.1:c.-360+4804C>T | ENSP00000512074.1:n.-360+4804C>T | |
| ENST00000452202.5:c.73+1940C>T | ENSP00000406121.1:n.73+1940C>T | |
| ENST00000452323.6:c.73+1940C>T | ENSP00000392322.2:n.73+1940C>T | |
| ENST00000469372.5:c.-64+5137C>T | ENSP00000418923.1:n.-64+5137C>T | |
| ENST00000497706.5:c.-64+5137C>T | ENSP00000417482.1:n.-64+5137C>T | |
| NM_001178063.2:c.73+1940C>T | NP_001171534.1:n.73+1940C>T | |
| NM_001282457.1:c.-64+5137C>T | NP_001269386.1:n.-64+5137C>T | |
| NM_001282457.2:c.-64+5137C>T | NP_001269386.1:n.-64+5137C>T | |
| NM_001178063.3:c.73+1940C>T | NP_001171534.1:n.73+1940C>T |