Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17285477A>G , CM000669.2:g.17285477A>G | GRCh38 |
| NC_000007.13:g.17325101A>G , CM000669.1:g.17325101A>G | GRCh37 |
| NC_000007.12:g.17291626A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642825.1:c.-202-10820A>G | ENSP00000495987.1:n.-202-10820A>G | |
| XR_927069.1:n.567+766T>C | ||
| XR_927070.1:n.567+766T>C | ||
| XR_927071.1:n.567+766T>C | ||
| XR_927072.1:n.568+766T>C | ||
| XR_927073.2:n.711+766T>C |