Canonical Allele Identifier:
CA279637052
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27045134G>T , CM000678.2:g.27045134G>T | GRCh38 |
| NC_000016.9:g.27056455G>T , CM000678.1:g.27056455G>T | GRCh37 |
| NC_000016.8:g.26963956G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950951.1:n.859+400C>A | ||
| XR_950952.1:n.1634+400C>A | ||
| XR_950953.1:n.1549-620C>A | ||
| XR_001752325.1:n.2108+400C>A | ||
| XR_001752326.1:n.1634+400C>A | ||
| XR_001752327.1:n.2023-620C>A |