gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68388099 (AFR)
Genomes Max Group AF
0.68388099 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133680858C>T , CM000665.2:g.133680858C>T | GRCh38 |
| NC_000003.11:g.133399702C>T , CM000665.1:g.133399702C>T | GRCh37 |
| NC_000003.10:g.134882392C>T | NCBI36 |
| NG_013080.2:g.23861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687252.1:n.67-7334C>T (INHCAP) | ||
| ENST00000460564.5:n.37-7334C>T (INHCAP) | ||
| ENST00000490470.5:n.37-7334C>T (INHCAP) | ||
| ENST00000497521.5:n.36-7334C>T (INHCAP) | ||
| XM_011513100.1:c.-1461-7334C>T (TF) | XP_011511402.1:n.-1461-7334C>T | |
| NM_001354703.1:c.-1112-7334C>T (TF) | NP_001341632.1:n.-1112-7334C>T | |
| NM_001354703.2:c.-1112-7334C>T (TF) | NP_001341632.2:n.-1112-7334C>T |