gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19602614C>T , CM000686.2:g.19602614C>T | GRCh38 |
| NC_000024.9:g.21764500C>T , CM000686.1:g.21764500C>T | GRCh37 |
| NC_000024.8:g.20223888C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445715.6:n.1250+303C>T | ||
| ENST00000253320.8:n.4821+303C>T | ||
| ENST00000445715.5:n.1591+303C>T | ||
| ENST00000592697.1:n.586+303C>T | ||
| NR_045128.1:n.1274+303C>T |