Canonical Allele Identifier:
CA867574475
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.82521969A>C , CM000671.2:g.82521969A>C | GRCh38 |
| NC_000009.11:g.85136884A>C , CM000671.1:g.85136884A>C | GRCh37 |
| NC_000009.10:g.84326704A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589973.2:n.247+25111A>C | ||
| ENST00000590298.5:n.440-42060A>C | ||
| ENST00000590791.5:n.526-2550A>C | ||
| ENST00000591257.5:n.347-2550A>C | ||
| ENST00000637606.1:n.985+25111A>C | ||
| XR_001746782.1:n.241+25111A>C |