Canonical Allele Identifier:
CA2499480551
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.92222742C>T , CM000667.2:g.92222742C>T | GRCh38 |
| NC_000005.9:g.91518559C>T , CM000667.1:g.91518559C>T | GRCh37 |
| NC_000005.8:g.91554315C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948565.1:n.394+18058C>T |