gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000255 (NFE)
Exomes Max Group AF
0.00000201 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44376100G>C , CM000672.2:g.44376100G>C | GRCh38 |
| NC_000010.10:g.44871548G>C , CM000672.1:g.44871548G>C | GRCh37 |
| NC_000010.9:g.44191554G>C | NCBI36 |
| NG_016861.1:g.13998C>G | |
| NG_016861.2:g.13998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374426.6:c.267-68C>G | ENSP00000363548.2:n.267-68C>G | |
| ENST00000374429.6:c.266+2537C>G | ENSP00000363551.2:n.266+2537C>G | |
| ENST00000395793.7:c.110-3010C>G | ENSP00000379139.3:n.110-3010C>G | |
| ENST00000395795.5:c.111-3011C>G | ENSP00000379141.5:n.111-3011C>G | |
| NM_000609.6:c.266+2537C>G | NP_000600.1:n.266+2537C>G | |
| NM_001033886.2:c.267-68C>G | NP_001029058.1:n.267-68C>G | |
| NM_001277990.1:c.110-3010C>G | NP_001264919.1:n.110-3010C>G | |
| XR_001747171.1:n.331+2537C>G | ||
| XR_001747172.1:n.331+2537C>G | ||
| XR_001747173.1:n.331+2537C>G | ||
| XR_001747174.1:n.331+2537C>G | ||
| NM_000609.7:c.266+2537C>G | NP_000600.1:n.266+2537C>G | |
| NM_001277990.2:c.110-3010C>G | NP_001264919.1:n.110-3010C>G |