gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57988608 (AFR)
Genomes Max Group AF
0.57988608 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13792458T>C , CM000686.2:g.13792458T>C | GRCh38 |
| NC_000024.9:g.15904338T>C , CM000686.1:g.15904338T>C | GRCh37 |
| NC_000024.8:g.14413732T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652544.1:n.684+37669T>C | ||
| ENST00000430079.5:n.477+1492T>C | ||
| ENST00000460561.1:n.260+1492T>C | ||
| ENST00000472227.5:n.398+1492T>C |