gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010265 (NFE)
Exomes Max Group AF
0.00011128 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324583G>C , CM000669.2:g.95324583G>C | GRCh38 |
| NC_000007.13:g.94953895G>C , CM000669.1:g.94953895G>C | GRCh37 |
| NC_000007.12:g.94791831G>C | NCBI36 |
| NG_008779.1:g.4990C>G | |
| NG_008779.2:g.5124C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.7:c.-108C>G | ENSP00000222381.3:n.-108C>G | |
| NM_000446.6:c.-108C>G | NP_000437.3:n.-108C>G |