Canonical Allele Identifier:
CA1175233350
Community Standard Title: NC_000001.11:g.72346757G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.72346757G>C , CM000663.2:g.72346757G>C | GRCh38 |
| NC_000001.10:g.72812440G>C , CM000663.1:g.72812440G>C | GRCh37 |
| NC_000001.9:g.72585028G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001737670.1:n.414+63352G>C | |
| XR_001737671.2:n.418+63352G>C | |
| XR_947505.1:n.310+63352G>C | |
| XR_947505.2:n.414+63352G>C | |
| XR_947506.1:n.310+63352G>C | |
| XR_947506.2:n.414+63352G>C | |
| XR_947507.1:n.310+63352G>C |