Canonical Allele Identifier:
CA2034479248
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48027251A>C , CM000674.2:g.48027251A>C | GRCh38 |
| NC_000012.11:g.48421034A>C , CM000674.1:g.48421034A>C | GRCh37 |
| NC_000012.10:g.46707301A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944904.1:n.227-2520A>C | ||
| XR_944908.1:n.168-2520A>C | ||
| XR_001749115.2:n.227-2520A>C | ||
| XR_001749116.2:n.168-2520A>C | ||
| XR_944904.2:n.227-2520A>C |