Canonical Allele Identifier:
CA15732504
Gene:
Linked Data
dbSNP Id:
rs10467147
gnomAD v2:
12-40767362-G-A
gnomAD v3:
12-40373560-G-A
gnomAD v4:
12-40373560-G-A
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_944868.1:n.485-18733C>T | ||
| XR_944869.1:n.485-1508C>T | ||
| XR_001749087.1:n.380-1508C>T | ||
| XR_001749088.1:n.347-1508C>T | ||
| XR_944868.2:n.485-18733C>T | ||
| XR_944869.2:n.485-1508C>T |