Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17285544A>C , CM000669.2:g.17285544A>C | GRCh38 |
| NC_000007.13:g.17325168A>C , CM000669.1:g.17325168A>C | GRCh37 |
| NC_000007.12:g.17291693A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000642825.1:c.-202-10753A>C | ENSP00000495987.1:n.-202-10753A>C |
| XR_927069.1:n.567+699T>G | |
| XR_927070.1:n.567+699T>G | |
| XR_927071.1:n.567+699T>G | |
| XR_927072.1:n.568+699T>G | |
| XR_927073.2:n.711+699T>G |