Canonical Allele Identifier:
CA11997936
Community Standard Title: NC_000005.10:g.28747216G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.28747216G>C , CM000667.2:g.28747216G>C | GRCh38 |
| NC_000005.9:g.28747323G>C , CM000667.1:g.28747323G>C | GRCh37 |
| NC_000005.8:g.28783080G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001742621.1:n.182+3047G>C | |
| XR_925882.1:n.75-37242C>G | |
| XR_925883.1:n.75-37242C>G | |
| XR_925884.1:n.75-37242C>G |