Canonical Allele Identifier:
CA803988265
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132059045C>G , CM000667.2:g.132059045C>G | GRCh38 |
| NC_000005.9:g.131394738C>G , CM000667.1:g.131394738C>G | GRCh37 |
| NC_000005.8:g.131422637C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948784.1:n.228+2426G>C | ||
| XR_948785.1:n.228+2426G>C | ||
| XR_948786.1:n.211+2426G>C | ||
| XR_001742531.1:n.243+2426G>C | ||
| XR_948784.2:n.251+2426G>C | ||
| XR_948785.2:n.251+2426G>C |