Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17298533T>C , CM000669.2:g.17298533T>C | GRCh38 |
| NC_000007.13:g.17338157T>C , CM000669.1:g.17338157T>C | GRCh37 |
| NC_000007.12:g.17304682T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000642825.1:c.20+1909T>C | ENSP00000495987.1:n.20+1909T>C |
| XR_927069.1:n.4A>G | |
| XR_927070.1:n.4A>G | |
| XR_927071.1:n.4A>G | |
| XR_927072.1:n.5A>G | |
| XR_927073.1:n.6A>G | |
| XR_927073.2:n.6A>G |