Canonical Allele Identifier:
CA2378344669
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.15440233C>G , CM000683.2:g.15440233C>G | GRCh38 |
| NC_000021.8:g.16812552C>G , CM000683.1:g.16812552C>G | GRCh37 |
| NC_000021.7:g.15734423C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937593.1:n.552+993G>C | ||
| XR_001754965.2:n.468+3791G>C | ||
| XR_001754970.2:n.468+3791G>C | ||
| XR_001754971.2:n.468+3791G>C |