gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02052083 (AFR)
Genomes Max Group AF
0.02052083 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179811261C>T , CM000667.2:g.179811261C>T | GRCh38 |
| NC_000005.9:g.179238261C>T , CM000667.1:g.179238261C>T | GRCh37 |
| NC_000005.8:g.179170867C>T | NCBI36 |
| NG_011342.1:g.9874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506042.5:n.195-313C>T | ||
| ENST00000506690.1:n.1105-313C>T | ||
| ENST00000514093.5:c.-156-313C>T | ENSP00000427308.1:n.-156-313C>T | |
| NM_001142298.1:c.-156-313C>T | NP_001135770.1:n.-156-313C>T | |
| NM_001142299.1:c.-156-313C>T | NP_001135771.1:n.-156-313C>T | |
| XM_011534683.1:c.500-313C>T | XP_011532985.1:n.500-313C>T | |
| XM_011534684.1:c.500-313C>T | XP_011532986.1:n.500-313C>T | |
| NM_001142298.2:c.-156-313C>T | NP_001135770.1:n.-156-313C>T | |
| NM_001142299.2:c.-156-313C>T | NP_001135771.1:n.-156-313C>T |