gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81000274 (AFR)
Genomes Max Group AF
0.81000274 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30605835A>G , CM000684.2:g.30605835A>G | GRCh38 |
| NC_000022.10:g.31001822A>G , CM000684.1:g.31001822A>G | GRCh37 |
| NC_000022.9:g.29331822A>G | NCBI36 |
| NG_007263.1:g.3662A>G , LRG_116:g.3662A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402281.5:c.-717-318T>C | ENSP00000384366.1:n.-717-318T>C | |
| ENST00000405677.5:c.-764-318T>C | ENSP00000385654.1:n.-764-318T>C | |
| ENST00000467368.1:n.62-318T>C | ||
| ENST00000492986.1:n.251-318T>C | ||
| NM_001282327.1:c.-717-318T>C | NP_001269256.1:n.-717-318T>C | |
| NM_001282328.1:c.-764-318T>C | NP_001269257.1:n.-764-318T>C |