gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68304835 (AFR)
Genomes Max Group AF
0.68304835 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153400456A>C , CM000685.2:g.153400456A>C | GRCh38 |
| NC_000023.10:g.152665914A>C , CM000685.1:g.152665914A>C | GRCh37 |
| NC_000023.9:g.152319108A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445091.3:c.-72+788T>G MANE Select | ENSP00000488500.1:n.-72+788T>G | |
| ENST00000445091.2:c.-72+788T>G | ENSP00000488500.1:n.-72+788T>G | |
| ENST00000633844.1:c.-72+788T>G | ENSP00000488404.1:n.-72+788T>G | |
| NM_001351293.1:c.-72+788T>G | NP_001338222.1:n.-72+788T>G | |
| NM_001351294.1:c.-72+214T>G | NP_001338223.1:n.-72+214T>G | |
| XM_024452426.1:c.-71-1536T>G | XP_024308194.1:n.-71-1536T>G | |
| NM_001367770.1:c.-72+788T>G MANE Select | NP_001354699.1:n.-72+788T>G | |
| NM_001351293.2:c.-72+788T>G | NP_001338222.1:n.-72+788T>G | |
| NM_001351294.2:c.-72+214T>G | NP_001338223.1:n.-72+214T>G |