gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007764 (EAS)
Exomes Max Group AF
0.00006999 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234513A>G , CM000673.2:g.5234513A>G | GRCh38 |
| NC_000011.9:g.5255743A>G , CM000673.1:g.5255743A>G | GRCh37 |
| NC_000011.8:g.5212319A>G | NCBI36 |
| NG_000007.3:g.63103T>C | |
| NG_063112.2:g.14145T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-52T>C | ENSP00000494708.1:n.-28-52T>C | |
| ENST00000380299.3:c.-80T>C | ENSP00000369654.3:n.-80T>C | |
| ENST00000429817.1:c.-80T>C | ENSP00000393810.1:n.-80T>C | |
| NM_000519.3:c.-80T>C | NP_000510.1:n.-80T>C |