gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7777436C>T , CM000686.2:g.7777436C>T | GRCh38 |
| NC_000024.9:g.7645477C>T , CM000686.1:g.7645477C>T | GRCh37 |
| NC_000024.8:g.7705477C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.115-732G>A | ||
| ENST00000652723.1:n.1027-732G>A | ||
| ENST00000442584.2:n.219-408G>A |