Canonical Allele Identifier:
CA620934588
Community Standard Title: NC_000016.10:g.9288472A>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9288472A>C , CM000678.2:g.9288472A>C | GRCh38 |
| NC_000016.9:g.9382329A>C , CM000678.1:g.9382329A>C | GRCh37 |
| NC_000016.8:g.9289830A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001752073.1:n.896+1220A>C | |
| XR_933053.1:n.84+1220A>C | |
| XR_933053.2:n.914+1220A>C | |
| XR_933054.1:n.70+103739A>C | |
| XR_933057.1:n.84+1220A>C |