Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293449G>A , CM000669.2:g.17293449G>A | GRCh38 |
| NC_000007.13:g.17333073G>A , CM000669.1:g.17333073G>A | GRCh37 |
| NC_000007.12:g.17299598G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642825.1:c.-202-2848G>A | ENSP00000495987.1:n.-202-2848G>A | |
| XR_927069.1:n.293+1717C>T | ||
| XR_927070.1:n.293+1717C>T | ||
| XR_927071.1:n.293+1717C>T | ||
| XR_927072.1:n.294+1717C>T | ||
| XR_927073.1:n.295+1717C>T | ||
| XR_927073.2:n.295+1717C>T |