gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90397013C>G , CM000676.2:g.90397013C>G | GRCh38 |
| NC_000014.8:g.90863357C>G , CM000676.1:g.90863357C>G | GRCh37 |
| NC_000014.7:g.89933110C>G | NCBI36 |
| NG_013338.1:g.5031C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.8:c.-218C>G | ENSP00000349467.4:n.-218C>G | |
| ENST00000557020.5:c.-106+355C>G | ENSP00000451062.1:n.-106+355C>G | |
| NM_006888.4:c.-218C>G | NP_008819.1:n.-218C>G | |
| NM_001363669.1:c.-106+355C>G | NP_001350598.1:n.-106+355C>G | |
| NM_006888.5:c.-218C>G | NP_008819.1:n.-218C>G | |
| NM_001363669.2:c.-106+355C>G | NP_001350598.1:n.-106+355C>G |