gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04178776 (NFE)
Genomes Max Group AF
0.03880586 (NFE)
Exomes Max Group AF
0.04223546 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67807105C>T , CM000677.2:g.67807105C>T | GRCh38 |
| NC_000015.9:g.68099443C>T , CM000677.1:g.68099443C>T | GRCh37 |
| NC_000015.8:g.65886497C>T | NCBI36 |
| NG_029143.1:g.269423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000178640.10:c.*355C>T MANE Select | ENSP00000178640.5:n.*355C>T | |
| ENST00000178640.9:c.*355C>T | ENSP00000178640.5:n.*355C>T | |
| ENST00000340972.8:c.*355C>T | ENSP00000342101.4:n.*355C>T | |
| ENST00000354498.9:c.*355C>T | ENSP00000346493.5:n.*355C>T | |
| ENST00000395476.6:c.*355C>T | ENSP00000378859.2:n.*355C>T | |
| NM_001206804.1:c.*355C>T | NP_001193733.1:n.*355C>T | |
| NM_002757.3:c.*355C>T | NP_002748.1:n.*355C>T | |
| NM_145160.2:c.*355C>T | NP_660143.1:n.*355C>T | |
| XM_011521784.1:c.*355C>T | XP_011520086.1:n.*355C>T | |
| XM_011521786.1:c.*355C>T | XP_011520088.1:n.*355C>T | |
| XM_024449988.1:c.*355C>T | XP_024305756.1:n.*355C>T | |
| NM_145160.3:c.*355C>T MANE Select | NP_660143.1:n.*355C>T | |
| NM_001206804.2:c.*355C>T | NP_001193733.1:n.*355C>T | |
| NM_002757.4:c.*355C>T | NP_002748.1:n.*355C>T |