gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293378G>A , CM000669.2:g.17293378G>A | GRCh38 |
| NC_000007.13:g.17333002G>A , CM000669.1:g.17333002G>A | GRCh37 |
| NC_000007.12:g.17299527G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-202-2919G>A | ENSP00000495987.1:n.-202-2919G>A | |
| XR_927069.1:n.293+1788C>T | ||
| XR_927070.1:n.293+1788C>T | ||
| XR_927071.1:n.293+1788C>T | ||
| XR_927072.1:n.294+1788C>T | ||
| XR_927073.1:n.295+1788C>T | ||
| XR_927073.2:n.295+1788C>T |