Canonical Allele Identifier:
CA2235989362
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79715456T>G , CM000678.2:g.79715456T>G | GRCh38 |
| NC_000016.9:g.79749353T>G , CM000678.1:g.79749353T>G | GRCh37 |
| NC_000016.8:g.78306854T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933767.1:n.2181+569T>G | ||
| XR_933768.1:n.753+569T>G | ||
| XR_933770.1:n.2181+569T>G | ||
| XR_933771.1:n.2181+569T>G | ||
| XR_001752268.1:n.746+569T>G | ||
| XR_001752269.1:n.746+569T>G | ||
| XR_002957872.1:n.2182+569T>G | ||
| XR_933771.2:n.746+569T>G |