COSMIC:
COSN26570014 (not active)
COSN26634546 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6039191 (AFR)
Genomes Max Group AF
0.60090407 (AFR)
Exomes Max Group AF
0.60336355 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39864166T>C , CM000679.2:g.39864166T>C | GRCh38 |
| NC_000017.10:g.38020419T>C , CM000679.1:g.38020419T>C | GRCh37 |
| NC_000017.9:g.35273945T>C | NCBI36 |
| NG_029104.2:g.5023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346872.8:c.-40A>G MANE Select | ENSP00000344544.3:n.-40A>G | |
| ENST00000293068.9:c.-40A>G | ENSP00000462791.1:n.-40A>G | |
| ENST00000346872.7:c.-40A>G | ENSP00000344544.3:n.-40A>G | |
| ENST00000348427.7:c.-40A>G | ENSP00000463505.1:n.-40A>G | |
| ENST00000377944.7:c.-40A>G | ENSP00000367179.3:n.-40A>G | |
| ENST00000377945.7:c.-40A>G | ENSP00000367180.3:n.-40A>G | |
| ENST00000377952.6:c.-40A>G | ENSP00000367188.2:n.-40A>G | |
| ENST00000377958.6:c.-40A>G | ENSP00000367194.2:n.-40A>G | |
| ENST00000394189.6:c.-40A>G | ENSP00000377741.2:n.-40A>G | |
| ENST00000439167.6:c.-40A>G | ENSP00000403776.2:n.-40A>G | |
| ENST00000535189.5:c.-40A>G | ENSP00000438972.1:n.-40A>G | |
| ENST00000623724.3:c.-907A>G | ENSP00000485515.1:n.-907A>G | |
| NM_001257408.1:c.-40A>G | NP_001244337.1:n.-40A>G | |
| NM_001257409.1:c.-40A>G | NP_001244338.1:n.-40A>G | |
| NM_001257410.1:c.-40A>G | NP_001244339.1:n.-40A>G | |
| NM_001257411.1:c.-40A>G | NP_001244340.1:n.-40A>G | |
| NM_001257412.1:c.-40A>G | NP_001244341.1:n.-40A>G | |
| NM_001257413.1:c.-40A>G | NP_001244342.1:n.-40A>G | |
| NM_001257414.1:c.-40A>G | NP_001244343.1:n.-40A>G | |
| NM_001284514.1:c.-907A>G | NP_001271443.1:n.-907A>G | |
| NM_001284515.1:c.-739A>G | NP_001271444.1:n.-739A>G | |
| NM_012481.4:c.-40A>G | NP_036613.2:n.-40A>G | |
| NM_183228.2:c.-40A>G | NP_899051.1:n.-40A>G | |
| NM_183229.2:c.-40A>G | NP_899052.1:n.-40A>G | |
| NM_183230.2:c.-40A>G | NP_899053.1:n.-40A>G | |
| NM_183231.2:c.-40A>G | NP_899054.1:n.-40A>G | |
| NM_183232.2:c.-40A>G | NP_899055.1:n.-40A>G | |
| NM_012481.5:c.-40A>G MANE Select | NP_036613.2:n.-40A>G | |
| NM_001257408.2:c.-40A>G | NP_001244337.1:n.-40A>G | |
| NM_001257409.2:c.-40A>G | NP_001244338.1:n.-40A>G | |
| NM_001257410.2:c.-40A>G | NP_001244339.1:n.-40A>G | |
| NM_001257411.2:c.-40A>G | NP_001244340.1:n.-40A>G | |
| NM_001257412.2:c.-40A>G | NP_001244341.1:n.-40A>G | |
| NM_001257413.2:c.-40A>G | NP_001244342.1:n.-40A>G | |
| NM_001257414.2:c.-40A>G | NP_001244343.1:n.-40A>G | |
| NM_001284515.2:c.-739A>G | NP_001271444.1:n.-739A>G | |
| NM_183228.3:c.-40A>G | NP_899051.1:n.-40A>G | |
| NM_183229.3:c.-40A>G | NP_899052.1:n.-40A>G | |
| NM_183230.3:c.-40A>G | NP_899053.1:n.-40A>G | |
| NM_183231.3:c.-40A>G | NP_899054.1:n.-40A>G | |
| NM_183232.3:c.-40A>G | NP_899055.1:n.-40A>G | |
| NM_001284514.2:c.-907A>G | NP_001271443.1:n.-907A>G |