Canonical Allele Identifier:
CA2137561882
Community Standard Title: NC_000014.9:g.53370767G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53370767G>C , CM000676.2:g.53370767G>C | GRCh38 |
| NC_000014.8:g.53837485G>C , CM000676.1:g.53837485G>C | GRCh37 |
| NC_000014.7:g.52907235G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001750969.1:n.4199+1266G>C | |
| XR_001750971.2:n.3895+1266G>C | |
| XR_001750972.2:n.4199+1266G>C | |
| XR_001750974.1:n.3895+1266G>C | |
| XR_001750975.2:n.182+1266G>C | |
| XR_001750976.1:n.4199+1266G>C | |
| XR_943876.1:n.53+1266G>C | |
| XR_943876.2:n.4199+1266G>C | |
| XR_943877.1:n.53+1266G>C | |
| XR_943877.3:n.4199+1266G>C | |
| XR_943878.1:n.53+1266G>C | |
| XR_943879.1:n.53+1266G>C | |
| XR_943879.2:n.4199+1266G>C |