Canonical Allele Identifier:
CA2520248992
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126999255T>C , CM000670.2:g.126999255T>C | GRCh38 |
| NC_000008.10:g.128011500T>C , CM000670.1:g.128011500T>C | GRCh37 |
| NC_000008.9:g.128080682T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746076.2:n.1301-7300T>C |