Canonical Allele Identifier:
CA2510969331
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20793556T>C , CM000676.2:g.20793556T>C | GRCh38 |
| NC_000014.8:g.21261715T>C , CM000676.1:g.21261715T>C | GRCh37 |
| NC_000014.7:g.20331555T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943584.1:n.585+770T>C | ||
| XR_943585.1:n.585+770T>C | ||
| XR_001750620.1:n.3271+770T>C | ||
| XR_001750621.1:n.3271+770T>C | ||
| XR_001750622.1:n.637+6348A>G | ||
| XR_001750623.1:n.637+6348A>G | ||
| XR_001750624.1:n.637+6348A>G |