gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86585987 (EAS)
Genomes Max Group AF
0.85498812 (EAS)
Exomes Max Group AF
0.86407145 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69651969C>G , CM000673.2:g.69651969C>G | GRCh38 |
| NC_000011.9:g.69466737C>G , CM000673.1:g.69466737C>G | GRCh37 |
| NC_000011.8:g.69175918C>G | NCBI36 |
| NG_007375.1:g.15865C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.*687C>G MANE Select | ENSP00000227507.2:n.*687C>G | |
| ENST00000227507.2:c.*687C>G | ENSP00000227507.2:n.*687C>G | |
| NM_053056.2:c.*687C>G | NP_444284.1:n.*687C>G | |
| XM_006718653.2:c.*687C>G | XP_006718716.1:n.*687C>G | |
| NM_053056.3:c.*687C>G MANE Select | NP_444284.1:n.*687C>G |