gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95913732 (AFR)
Genomes Max Group AF
0.95913732 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119809354T>C , CM000663.2:g.119809354T>C | GRCh38 |
| NC_000001.10:g.120351977T>C , CM000663.1:g.120351977T>C | GRCh37 |
| NC_000001.9:g.120153500T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256585.10:c.-94-491A>G MANE Select | ENSP00000256585.5:n.-94-491A>G | |
| ENST00000256585.9:c.-94-491A>G | ENSP00000256585.5:n.-94-491A>G | |
| ENST00000354219.5:c.-268-152A>G | ENSP00000346158.1:n.-268-152A>G | |
| ENST00000369401.4:c.-94-491A>G | ENSP00000358409.4:n.-94-491A>G | |
| NM_001159352.1:c.-268-152A>G | NP_001152824.1:n.-268-152A>G | |
| NM_001159353.1:c.-94-491A>G | NP_001152825.1:n.-94-491A>G | |
| NM_032044.3:c.-94-491A>G | NP_114433.1:n.-94-491A>G | |
| NM_032044.4:c.-94-491A>G MANE Select | NP_114433.1:n.-94-491A>G | |
| NM_001159352.2:c.-268-152A>G | NP_001152824.1:n.-268-152A>G | |
| NM_001159353.2:c.-94-491A>G | NP_001152825.1:n.-94-491A>G |