gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293277T>A , CM000669.2:g.17293277T>A | GRCh38 |
| NC_000007.13:g.17332901T>A , CM000669.1:g.17332901T>A | GRCh37 |
| NC_000007.12:g.17299426T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-202-3020T>A | ENSP00000495987.1:n.-202-3020T>A | |
| XR_927069.1:n.293+1889A>T | ||
| XR_927070.1:n.293+1889A>T | ||
| XR_927071.1:n.293+1889A>T | ||
| XR_927072.1:n.294+1889A>T | ||
| XR_927073.1:n.295+1889A>T | ||
| XR_927073.2:n.295+1889A>T |