Canonical Allele Identifier:
CA1611880139
Community Standard Title: NC_000006.12:g.14596134A>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14596134A>C , CM000668.2:g.14596134A>C | GRCh38 |
| NC_000006.11:g.14596365A>C , CM000668.1:g.14596365A>C | GRCh37 |
| NC_000006.10:g.14704344A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001743989.1:n.270+1380T>G | |
| XR_001743990.1:n.270+1380T>G | |
| XR_001743991.1:n.270+1380T>G | |
| XR_001743992.1:n.703+1380T>G | |
| XR_001743993.1:n.270+1380T>G | |
| XR_241980.3:n.565+1380T>G | |
| XR_926516.2:n.270+1380T>G |