Canonical Allele Identifier:
CA447203715
Community Standard Title: NC_000005.10:g.151366473A>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151366473A>C , CM000667.2:g.151366473A>C | GRCh38 |
| NC_000005.9:g.150746034A>C , CM000667.1:g.150746034A>C | GRCh37 |
| NC_000005.8:g.150726227A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000517788.1:n.1136T>G | |
| ENST00000647906.1:n.1242T>G | |
| XR_944423.1:n.1285-13667T>G | |
| XR_944423.3:n.1318-13667T>G | |
| XR_944425.1:n.1470T>G | |
| XR_944425.3:n.1503T>G | |
| XR_944426.1:n.1285-9881T>G | |
| XR_944426.3:n.1318-9881T>G |