gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132657117C>G , CM000667.2:g.132657117C>G | GRCh38 |
| NC_000005.9:g.131992809C>G , CM000667.1:g.131992809C>G | GRCh37 |
| NC_000005.8:g.132020708C>G | NCBI36 |
| NG_012090.1:g.3945C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459878.5:n.107+487C>G | ||
| ENST00000468334.5:n.420C>G | ||
| ENST00000487267.5:n.147C>G | ||
| NM_001354991.1:c.-93+487C>G | NP_001341920.1:n.-93+487C>G | |
| NM_001354992.1:c.-220C>G | NP_001341921.1:n.-220C>G | |
| NM_001354993.1:c.-149C>G | NP_001341922.1:n.-149C>G | |
| NM_001354991.2:c.-93+487C>G | NP_001341920.1:n.-93+487C>G | |
| NM_001354992.2:c.-220C>G | NP_001341921.1:n.-220C>G | |
| NM_001354993.2:c.-149C>G | NP_001341922.1:n.-149C>G |