Canonical Allele Identifier:
CA2072411491
Gene:
Linked Data
dbSNP Id:
rs1758551030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131529595G>A , CM000674.2:g.131529595G>A | GRCh38 |
| NC_000012.11:g.132014140G>A , CM000674.1:g.132014140G>A | GRCh37 |
| NC_000012.10:g.130580093G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945564.1:n.1076+180C>T | ||
| XR_001749407.2:n.1067+180C>T |