gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159615G>C , CM000673.2:g.2159615G>C | GRCh38 |
| NC_000011.9:g.2180845G>C , CM000673.1:g.2180845G>C | GRCh37 |
| NC_000011.8:g.2137421G>C | NCBI36 |
| NG_007114.1:g.6580C>G | |
| NG_050578.1:g.6595C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356578.8:c.187+1170C>G | ENSP00000348986.4:n.187+1170C>G | |
| ENST00000397270.1:c.187+1170C>G | ENSP00000380440.1:n.187+1170C>G | |
| NM_001042376.2:c.187+1170C>G | NP_001035835.1:n.187+1170C>G | |
| NR_003512.3:n.246+1170C>G | ||
| NM_001042376.3:c.187+1170C>G | NP_001035835.1:n.187+1170C>G | |
| NR_003512.4:n.246+1170C>G |