Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293233A= , CM000669.2:g.17293233A= | GRCh38 |
| NC_000007.13:g.17332857A= , CM000669.1:g.17332857A= | GRCh37 |
| NC_000007.12:g.17299382A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-202-3064A= | ENSP00000495987.1:n.-202-3064A= | |
| XR_927069.1:n.293+1933T= | ||
| XR_927070.1:n.293+1933T= | ||
| XR_927071.1:n.293+1933T= | ||
| XR_927072.1:n.294+1933T= | ||
| XR_927073.1:n.296-1862T= | ||
| XR_927073.2:n.296-1862T= |