gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00165768 (AFR)
Genomes Max Group AF
0.00162908 (AFR)
Exomes Max Group AF
0.00146906 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67606960T>G , CM000673.2:g.67606960T>G | GRCh38 |
| NC_000011.9:g.67374431T>G , CM000673.1:g.67374431T>G | GRCh37 |
| NC_000011.8:g.67131007T>G | NCBI36 |
| NG_013353.1:g.5109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.-45T>G MANE Select | ENSP00000322450.6:n.-45T>G | |
| ENST00000647561.1:c.-45T>G | ENSP00000497587.1:n.-45T>G | |
| ENST00000322776.10:c.-45T>G | ENSP00000322450.6:n.-45T>G | |
| ENST00000415352.6:c.-45T>G | ENSP00000395368.2:n.-45T>G | |
| ENST00000524838.5:n.17T>G | ||
| ENST00000524876.5:n.17T>G | ||
| ENST00000525086.5:n.3T>G | ||
| ENST00000528328.1:c.-223T>G | ENSP00000436906.1:n.-223T>G | |
| ENST00000528548.5:n.7T>G | ||
| ENST00000529867.5:c.-45T>G | ENSP00000434438.1:n.-45T>G | |
| ENST00000529927.5:c.-45T>G | ENSP00000436766.1:n.-45T>G | |
| ENST00000530014.5:n.3T>G | ||
| ENST00000530103.5:c.-45T>G | ENSP00000434575.1:n.-45T>G | |
| ENST00000532244.5:c.-344T>G | ENSP00000435202.1:n.-344T>G | |
| ENST00000532260.1:n.3T>G | ||
| ENST00000532303.5:c.-265T>G | ENSP00000432015.1:n.-265T>G | |
| ENST00000532343.5:c.-317T>G | ENSP00000431751.1:n.-317T>G | |
| ENST00000533075.5:c.-45T>G | ENSP00000437267.1:n.-45T>G | |
| ENST00000534139.5:n.3T>G | ||
| NM_001166102.1:c.-45T>G | NP_001159574.1:n.-45T>G | |
| NM_007103.3:c.-45T>G | NP_009034.2:n.-45T>G | |
| NM_001166102.2:c.-45T>G | NP_001159574.1:n.-45T>G | |
| NM_007103.4:c.-45T>G MANE Select | NP_009034.2:n.-45T>G |