Canonical Allele Identifier:
CA15732504
Community Standard Title: NC_000012.12:g.40373560G>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40373560G>A , CM000674.2:g.40373560G>A | GRCh38 |
| NC_000012.11:g.40767362G>A , CM000674.1:g.40767362G>A | GRCh37 |
| NC_000012.10:g.39053629G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001749087.1:n.380-1508C>T | |
| XR_001749088.1:n.347-1508C>T | |
| XR_944868.1:n.485-18733C>T | |
| XR_944868.2:n.485-18733C>T | |
| XR_944869.1:n.485-1508C>T | |
| XR_944869.2:n.485-1508C>T |