ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06454111 (AFR)
Genomes Max Group AF
0.06181858 (AFR)
Exomes Max Group AF
0.06728805 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197146547G>A , CM000663.2:g.197146547G>A | GRCh38 |
| NC_000001.10:g.197115677G>A , CM000663.1:g.197115677G>A | GRCh37 |
| NC_000001.9:g.195382300G>A | NCBI36 |
| NG_015867.1:g.5148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.-110C>T MANE Select | ENSP00000356379.4:n.-110C>T | |
| ENST00000679766.1:n.108C>T | ||
| ENST00000680265.1:c.-110C>T | ENSP00000505384.1:n.-110C>T | |
| ENST00000294732.11:c.-110C>T | ENSP00000294732.7:n.-110C>T | |
| ENST00000367409.8:c.-110C>T | ENSP00000356379.4:n.-110C>T | |
| ENST00000612785.1:c.-110C>T | ENSP00000479244.1:n.-110C>T | |
| NM_001206846.1:c.-110C>T | NP_001193775.1:n.-110C>T | |
| NM_018136.4:c.-110C>T | NP_060606.3:n.-110C>T | |
| NM_018136.5:c.-110C>T MANE Select | NP_060606.3:n.-110C>T | |
| NM_001206846.2:c.-110C>T | NP_001193775.1:n.-110C>T |