gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17995963 (SAS)
Genomes Max Group AF
0.17995963 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33073957T>C , CM000668.2:g.33073957T>C | GRCh38 |
| NC_000006.11:g.33041734T>C , CM000668.1:g.33041734T>C | GRCh37 |
| NC_000006.10:g.33149712T>C | NCBI36 |
| NG_033241.1:g.11822A>G | |
| NG_033242.1:g.3032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417724.1:c.-140-247A>G | ENSP00000398134.1:n.-140-247A>G | |
| ENST00000419277.5:c.-99-288A>G | ENSP00000393566.1:n.-99-288A>G | |
| ENST00000453337.1:c.-202-185A>G | ENSP00000390929.1:n.-202-185A>G | |
| ENST00000476642.5:n.77-4071A>G | ||
| NM_001242524.1:c.-99-288A>G | NP_001229453.1:n.-99-288A>G | |
| NM_001242525.1:c.-23-364A>G | NP_001229454.1:n.-23-364A>G | |
| NM_001242524.2:c.-99-288A>G | NP_001229453.1:n.-99-288A>G | |
| NM_001242525.2:c.-23-364A>G | NP_001229454.1:n.-23-364A>G |