Canonical Allele Identifier:
CA2581555718
Community Standard Title: NC_000006.12:g.29854484G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29854484G>C , CM000668.2:g.29854484G>C | GRCh38 |
| NC_000006.11:g.29822261G>C , CM000668.1:g.29822261G>C | GRCh37 |
| NC_000006.10:g.29930240G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000647952.1:n.2156-1998C>G | |
| XR_926680.1:n.42-1998C>G | |
| XR_926680.2:n.42-1998C>G | |
| XR_926681.1:n.42-1998C>G | |
| XR_926681.2:n.42-1998C>G | |
| XR_926682.1:n.42-1998C>G | |
| XR_926682.2:n.42-1998C>G |