COSMIC:
COSN24472022 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66443494 (AFR)
Genomes Max Group AF
0.66448253 (AFR)
Exomes Max Group AF
0.48923477 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94390577G>A , CM000676.2:g.94390577G>A | GRCh38 |
| NC_000014.8:g.94856914G>A , CM000676.1:g.94856914G>A | GRCh37 |
| NC_000014.7:g.93926667G>A | NCBI36 |
| NG_008290.1:g.5116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355814.8:c.-162C>T | ENSP00000348068.4:n.-162C>T | |
| ENST00000393088.8:c.-439C>T | ENSP00000376803.4:n.-439C>T | |
| ENST00000404814.8:c.-226C>T | ENSP00000385960.4:n.-226C>T | |
| ENST00000437397.5:c.-266C>T | ENSP00000408474.1:n.-266C>T | |
| ENST00000440909.5:c.-125C>T | ENSP00000390299.1:n.-125C>T | |
| ENST00000448921.5:c.-458C>T | ENSP00000416066.1:n.-458C>T | |
| ENST00000449399.7:c.-229C>T | ENSP00000416354.3:n.-229C>T | |
| ENST00000553327.5:c.-266C>T | ENSP00000452480.1:n.-266C>T | |
| ENST00000555289.5:n.59C>T | ||
| ENST00000556955.5:c.-162C>T | ENSP00000451098.1:n.-162C>T | |
| ENST00000557093.1:n.59C>T | ||
| ENST00000557118.5:c.-458C>T | ENSP00000451826.1:n.-458C>T | |
| ENST00000557361.5:n.59C>T | ||
| ENST00000557492.5:c.-418C>T | ENSP00000452452.1:n.-418C>T | |
| NM_001002235.2:c.-125C>T | NP_001002235.1:n.-125C>T | |
| NM_001002236.2:c.-439C>T | NP_001002236.1:n.-439C>T | |
| NM_001127700.1:c.-162C>T | NP_001121172.1:n.-162C>T | |
| NM_001127701.1:c.-458C>T | NP_001121173.1:n.-458C>T | |
| NM_001127702.1:c.-266C>T | NP_001121174.1:n.-266C>T | |
| NM_001127703.1:c.-421C>T | NP_001121175.1:n.-421C>T | |
| NM_001127704.1:c.-418C>T | NP_001121176.1:n.-418C>T | |
| NM_001127705.1:c.-436C>T | NP_001121177.1:n.-436C>T | |
| NM_001127706.1:c.-229C>T | NP_001121178.1:n.-229C>T | |
| NM_001127707.1:c.-226C>T | NP_001121179.1:n.-226C>T | |
| XM_017021370.1:c.-364C>T | XP_016876859.1:n.-364C>T | |
| NM_001002235.3:c.-125C>T | NP_001002235.1:n.-125C>T | |
| NM_001002236.3:c.-439C>T | NP_001002236.1:n.-439C>T | |
| NM_001127700.2:c.-162C>T | NP_001121172.1:n.-162C>T | |
| NM_001127701.2:c.-458C>T | NP_001121173.1:n.-458C>T | |
| NM_001127702.2:c.-266C>T | NP_001121174.1:n.-266C>T | |
| NM_001127703.2:c.-421C>T | NP_001121175.1:n.-421C>T | |
| NM_001127704.2:c.-418C>T | NP_001121176.1:n.-418C>T | |
| NM_001127705.2:c.-436C>T | NP_001121177.1:n.-436C>T | |
| NM_001127706.2:c.-229C>T | NP_001121178.1:n.-229C>T | |
| NM_001127707.2:c.-226C>T | NP_001121179.1:n.-226C>T |