gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66935947 (AMR)
Genomes Max Group AF
0.66935947 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38323184A>G , CM000684.2:g.38323184A>G | GRCh38 |
| NC_000022.10:g.38719189A>G , CM000684.1:g.38719189A>G | GRCh37 |
| NC_000022.9:g.37049135A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400206.7:c.-12-9015T>C (TPTEP2-CSNK1E) | ENSP00000383067.2:n.-12-9015T>C | |
| ENST00000400206.6:c.-12-9015T>C (CSNK1E) | ENSP00000383067.2:n.-12-9015T>C | |
| NM_001289912.1:c.-12-9015T>C (TPTEP2-CSNK1E) | NP_001276841.1:n.-12-9015T>C | |
| NM_001289912.2:c.-12-9015T>C (TPTEP2-CSNK1E) | NP_001276841.1:n.-12-9015T>C |